Public Example GIST
This document is not intended to support clinical reporting and must be strictly limited to academic research use only.
Cancer Type:
Gastrointestinal Stromal Tumor
1 non-relevant event not shown in the report (e.g. when a variant maps to both strands, the one with no representative gene/transcript) Download
Putative functionally relevant variants: 2
| Gene | Gene Info | Alteration | Functional relevance evidence | Reported biomarker(s) |
|---|---|---|---|---|
|
BRAF
|
OG
Oncogene
This gene acts (predominantly) as an oncogene, and thus activating alterations are the main drivers. Gene mechanism of action has been determined based on the Cancer Gene Census, the 20/20 rule and manual curation. |
Mutation
missense
p.Val600Glu
exon 15/18
more
chr7:140453136 A/T (GRCh37/hg19)
Transcript: ENST00000288602 HGVSp: ENSP00000288602.6:p.Val600Glu HGVSc: ENST00000288602.6:c.1799T>A Location: exon 15/18 Consequence: missense variant Representative Transcript ──────────────────────── Transcript: ENST00000479537 HGVSp: ENSP00000418033.1:p.Val28Glu HGVSc: ENST00000479537.1:c.83T>A Location: exon 2/6 Consequence: missense variant,NMD transcript variant ──────────────────────── Transcript: ENST00000496384 HGVSp: ENSP00000419060.1:p.Val208Glu HGVSc: ENST00000496384.2:c.623T>A Location: exon 6/10 Consequence: missense variant ──────────────────────── Transcript: ENST00000497784 HGVSp: - HGVSc: ENST00000497784.1:c.*1249T>A Location: exon 16/19 Consequence: 3 prime UTR variant,NMD transcript variant |
Evidence A (curated):
>Pathogenic/Likely pathogenic, ClinVar
BRAF p.Val600Glu https://www.ncbi.nlm.nih.gov/clinvar/variation/13961 Effect: Pathogenic/Likely pathogenic Allele origin: BRAF Review status: criteria provided, multiple submitters, no conflicts >Oncogenic, Biomarker, OncoKB
BRAF p.Val600Glu https://oncokb.org/#/gene/BRAF/alteration/V600E Effect: Oncogenic, Biomarker The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. >Diagnostic, Poor Outcome, Resistance, Sensitivity/Response, CIViC
BRAF p.Val600Glu https://civicdb.org/links/variants/12 Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Positive Drug: n/a Disease: hairy cell leukemia Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 21663470 https://civicdb.org/links/variants/17 Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Positive Drug: n/a Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 21166657 https://civicdb.org/links/variants/12 Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Positive Drug: n/a Disease: thyroid cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 21594703 https://civicdb.org/links/variants/12 Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Positive Drug: n/a Disease: thyroid gland papillary carcinoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 24570209 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 32758030 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: FOLFOX-4 Regimen,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 25666295 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 23569304 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26557775 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: lung non-small cell carcinoma Evidence level: A - Guideline Trust rating: 4/5 Source PMID: 27283860 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 25524477 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: skin melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 25399551 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: childhood pilocytic astrocytoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 25524464 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: ovarian serous carcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 26490654 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Panitumumab Disease: colorectal cancer Evidence level: C - Case study Trust rating: 3/5 Source PMID: 20619739 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: cholangiocarcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 28480077 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 22663011 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Bevacizumab,Oxaliplatin,Capecitabine Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19571295 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Irinotecan Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Oxaliplatin Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Cetuximab,Panitumumab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19001320 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Irinotecan,Vemurafenib,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 27729313 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 20818844 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: multiple myeloma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 24997557 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: thyroid gland papillary carcinoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 27460442 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib,Vemurafenib Disease: gastrointestinal neuroendocrine tumor Evidence level: C - Case study Trust rating: 3/5 Source PMID: 27048246 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib,Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 25265494 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: thyroid gland papillary carcinoma Evidence level: C - Case study Trust rating: 4/5 Source PMID: 24987354 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: skin melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 22356324 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: skin melanoma Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 21639808 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: intrahepatic cholangiocarcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 28078132 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: intrahepatic cholangiocarcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 25435907 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 28891408 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: lung non-small cell carcinoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 29320312 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: skin melanoma Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 25399551 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib,Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 25265494 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: lung non-small cell carcinoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26287849 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: langerhans-cell histiocytosis Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26287849 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Vemurafenib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26287849 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 22663011 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 22608338 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: cholangiocarcinoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 26287849 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cetuximab,Encorafenib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 28363909 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Encorafenib,Cetuximab,Alpelisib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 28363909 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 28891408 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 25265492 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib,Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 25037139 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Encorafenib,Binimetinib Disease: melanoma Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 29573941 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib,Vemurafenib Disease: melanoma Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 27480103 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Irinotecan,Vemurafenib,Panitumumab Disease: cholangiocarcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 26687137 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 23020132 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: low grade glioma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 32523649 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: ovarian cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 29320312 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Pertuzumab,Vemurafenib Disease: thyroid gland anaplastic carcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 29320312 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: laryngeal squamous cell carcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 29320312 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: thyroid gland anaplastic carcinoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26287849 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Panitumumab,Trametinib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 29431699 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 25265492 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Panitumumab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 23325582 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 23020132 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Encorafenib,Binimetinib,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 168986 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: biliary tract cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 169315 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: langerhans cell sarcoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 31513482 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cetuximab,Encorafenib,Binimetinib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 31566309 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: thyroid gland papillary carcinoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 27460442 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Encorafenib,Cetuximab Disease: colorectal cancer Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 31566309 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: thyroid gland anaplastic carcinoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 29072975 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 24508103 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Atezolizumab,Vemurafenib,Cobimetinib Disease: melanoma Evidence level: A - Guideline Trust rating: 4/5 Source PMID: 32534646 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib,Irinotecan,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 147167 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 20619739 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Chemotherapy,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 20619739 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Oxaliplatin Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Irinotecan Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Bevacizumab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 24583796 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib Disease: cancer Evidence level: D - Preclinical Trust rating: 3/5 Source PMID: 23934108 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib Disease: cancer Evidence level: D - Preclinical Trust rating: 4/5 Source PMID: 22169769
Inconclusive curation:
>Population AF<1%, gnomAD/1000G
BRAF p.Val600Glu This variant is observed across population databases with max AF< 1% (3.267e-05), which is the threshold used to assume that the variant should be neutral gnomAD combined population: 3.98e-06 gnomAD African/African American: 0 gnomAD Ashkenazi Jewish: 0 gnomAD East Asian: 0 gnomAD European (Finnish): 0 gnomAD European (non-Finnish): 0 gnomAD South Asian: 0 gnomAD Other: 0 1000G European: - 1000G African: - 1000G American: - 1000G East Asian: - 1000G South Asian: - >Inconclusive/weaker evidence, ClinVar
BRAF p.Val600Glu https://www.ncbi.nlm.nih.gov/clinvar/variation/376069 Effect: Likely pathogenic Allele origin: BRAF Review status: no assertion criteria provided |
Tier 1b-Ready for use (basket), 1 assertions
Tier 1b includes variants described as biomarkers with a putative pan-cancer effect supported by the highest level of clinical evidence, i.e. approved/recommended by professional guidelines.
Please check the original assertions provided by each knowledgebase listed below >Reported sensitivity/response: Dabrafenib; Trametinib https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_1 Drug: Dabrafenib,Trametinib Disease: SOLID (excluding Colorectal Cancer) The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. Tier 2-Investig. (basket match), 1 assertions
Tier 2 includes variants described as drug/prognostic biomarkers according to investigational clinical data for this cancer type
Please check the original assertions provided by each knowledgebase listed below >Reported sensitivity/response: Dabrafenib; Trametinib https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 32758030 Tier 3-Cancer repurposing, 108 assertions
Tier 3 includes variants described as drug/prognostic biomarkers for other cancer types (cancer type repurposing)
Please check the original assertions provided by each knowledgebase listed below >Reported sensitivity/response: Alpelisib; Atezolizumab; Bevacizumab; Binimetinib; Capecitabine; Cetuximab; Chemotherapy; Cobimetinib; Dabrafenib; Encorafenib; FOLFOX Regimen; FOLFOX-4 Regimen; Irinotecan; Oxaliplatin; Panitumumab; Pertuzumab; Selumetinib; Tovorafenib; Trametinib; Vemurafenib https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: FOLFOX-4 Regimen,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 25666295 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 23569304 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26557775 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: lung non-small cell carcinoma Evidence level: A - Guideline Trust rating: 4/5 Source PMID: 27283860 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 25524477 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: skin melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 25399551 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: childhood pilocytic astrocytoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 25524464 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: ovarian serous carcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 26490654 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Panitumumab Disease: colorectal cancer Evidence level: C - Case study Trust rating: 3/5 Source PMID: 20619739 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: cholangiocarcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 28480077 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 22663011 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Bevacizumab,Oxaliplatin,Capecitabine Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19571295 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Irinotecan Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Oxaliplatin Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Cetuximab,Panitumumab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19001320 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Irinotecan,Vemurafenib,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 27729313 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 20818844 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: multiple myeloma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 24997557 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: thyroid gland papillary carcinoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 27460442 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib,Vemurafenib Disease: gastrointestinal neuroendocrine tumor Evidence level: C - Case study Trust rating: 3/5 Source PMID: 27048246 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib,Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 25265494 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: thyroid gland papillary carcinoma Evidence level: C - Case study Trust rating: 4/5 Source PMID: 24987354 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: skin melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 22356324 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: skin melanoma Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 21639808 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: intrahepatic cholangiocarcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 28078132 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: intrahepatic cholangiocarcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 25435907 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 28891408 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: lung non-small cell carcinoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 29320312 https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: skin melanoma Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 25399551 https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib,Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 25265494 https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: lung non-small cell carcinoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26287849 https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: langerhans-cell histiocytosis Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26287849 https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Vemurafenib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26287849 https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 22663011 https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 22608338 https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: cholangiocarcinoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 26287849 https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cetuximab,Encorafenib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 28363909 https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Encorafenib,Cetuximab,Alpelisib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 28363909 https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 28891408 https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 25265492 https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib,Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 25037139 https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Encorafenib,Binimetinib Disease: melanoma Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 29573941 https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib,Vemurafenib Disease: melanoma Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 27480103 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Irinotecan,Vemurafenib,Panitumumab Disease: cholangiocarcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 26687137 https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 23020132 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: low grade glioma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 32523649 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: ovarian cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 29320312 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Pertuzumab,Vemurafenib Disease: thyroid gland anaplastic carcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 29320312 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: laryngeal squamous cell carcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 29320312 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: thyroid gland anaplastic carcinoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26287849 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Panitumumab,Trametinib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 29431699 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 25265492 https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Panitumumab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 23325582 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 23020132 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Encorafenib,Binimetinib,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 168986 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: biliary tract cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 169315 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: langerhans cell sarcoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 31513482 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cetuximab,Encorafenib,Binimetinib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 31566309 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: thyroid gland papillary carcinoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 27460442 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Encorafenib,Cetuximab Disease: colorectal cancer Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 31566309 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: thyroid gland anaplastic carcinoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 29072975 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 24508103 https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Atezolizumab,Vemurafenib,Cobimetinib Disease: melanoma Evidence level: A - Guideline Trust rating: 4/5 Source PMID: 32534646 https://oncokb.org/#/gene/BRAF/alteration/V600K, V600E Biomarker: BRAF V600K, V600E Effect: drug Responsive Evidence level: LEVEL_1 Drug: Trametinib Disease: Melanoma The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_2 Drug: Vemurafenib,Cobimetinib Disease: Glioma The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_2 Drug: Vemurafenib,Cobimetinib Disease: Glioma (excluding Gliomas, Glioneuronal Tumors, and Neuronal Tumors, Glioma) The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/V600 Biomarker: BRAF V600 Effect: drug Responsive Evidence level: LEVEL_2 Drug: Vemurafenib Disease: Histiocytosis The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_2 Drug: Vemurafenib Disease: Mature B-Cell Neoplasms The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_2 Drug: Selumetinib Disease: Glioma The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_2 Drug: Encorafenib,Panitumumab Disease: Colorectal Cancer The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/V600K, V600E Biomarker: BRAF V600K, V600E Effect: drug Responsive Evidence level: LEVEL_1 Drug: Vemurafenib,Cobimetinib Disease: Melanoma The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/V600 Biomarker: BRAF V600 Effect: drug Responsive Evidence level: LEVEL_1 Drug: Vemurafenib,Atezolizumab,Cobimetinib Disease: Melanoma The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_1 Drug: Vemurafenib Disease: Melanoma The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/V600 Biomarker: BRAF V600 Effect: drug Responsive Evidence level: LEVEL_1 Drug: Vemurafenib Disease: Histiocytosis The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/V600 Biomarker: BRAF V600 Effect: drug Responsive Evidence level: LEVEL_1 Drug: Tovorafenib Disease: Glioma The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_1 Drug: Encorafenib,Cetuximab,FOLFOX Regimen Disease: Colorectal Cancer The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_1 Drug: Encorafenib,Cetuximab Disease: Colorectal Cancer The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_1 Drug: Encorafenib,Binimetinib Disease: Non-Small Cell Lung Cancer The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/V600K, V600E Biomarker: BRAF V600K, V600E Effect: drug Responsive Evidence level: LEVEL_1 Drug: Encorafenib,Binimetinib Disease: Melanoma The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/Oncogenic Mutations (excluding V600) Biomarker: BRAF Oncogenic Mutations (excluding V600) Effect: drug Responsive Evidence level: LEVEL_2 Drug: Trametinib Disease: Histiocytosis The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/Oncogenic Mutations (excluding V600) Biomarker: BRAF Oncogenic Mutations (excluding V600) Effect: drug Responsive Evidence level: LEVEL_3A Drug: Cobimetinib Disease: Histiocytosis The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/Oncogenic Mutations (excluding V600) Biomarker: BRAF Oncogenic Mutations (excluding V600) Effect: drug Responsive Evidence level: LEVEL_3A Drug: Trametinib Disease: Histiocytosis The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_1 Drug: Dabrafenib,Trametinib Disease: Non-Small Cell Lung Cancer The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/V600K, V600E Biomarker: BRAF V600K, V600E Effect: drug Responsive Evidence level: LEVEL_1 Drug: Dabrafenib,Trametinib Disease: Melanoma The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_1 Drug: Dabrafenib,Trametinib Disease: Glioma The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_1 Drug: Dabrafenib,Trametinib Disease: Biliary Tract Cancer The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_1 Drug: Dabrafenib Disease: Melanoma The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_2 Drug: Vemurafenib,Cobimetinib Disease: Glioma The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_1 Drug: Dabrafenib,Trametinib Disease: Thyroid Cancer The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_2 Drug: Vemurafenib,Cobimetinib Disease: Glioma The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/V600 Biomarker: BRAF V600 Effect: drug Responsive Evidence level: LEVEL_2 Drug: Dabrafenib Disease: Histiocytosis The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib,Irinotecan,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 147167 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 20619739 https://civicdb.org/links/variants/399 Biomarker: BRAF Mutation Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Chemotherapy,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 20619739 https://civicdb.org/links/variants/399 Biomarker: BRAF Mutation Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Oxaliplatin Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/399 Biomarker: BRAF Mutation Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Irinotecan Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/399 Biomarker: BRAF Mutation Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Bevacizumab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/399 Biomarker: BRAF Mutation Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_2 Drug: Vemurafenib,Cobimetinib Disease: Glioma The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/Oncogenic Mutations (excluding V600) Biomarker: BRAF Oncogenic Mutations (excluding V600) Effect: drug Responsive Evidence level: LEVEL_2 Drug: Cobimetinib Disease: Histiocytosis The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_1 Drug: Dabrafenib,Trametinib Disease: Hepatobiliary Cancer The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/Oncogenic Mutations (excluding V600) Biomarker: BRAF Oncogenic Mutations (excluding V600) Effect: drug Responsive Evidence level: LEVEL_2 Drug: Cobimetinib Disease: Histiocytosis The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/Oncogenic Mutations (excluding V600) Biomarker: BRAF Oncogenic Mutations (excluding V600) Effect: drug Responsive Evidence level: LEVEL_2 Drug: Cobimetinib Disease: Histiocytosis The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/Oncogenic Mutations (excluding V600) Biomarker: BRAF Oncogenic Mutations (excluding V600) Effect: drug Responsive Evidence level: LEVEL_2 Drug: Trametinib Disease: Histiocytosis The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/Oncogenic Mutations (excluding V600) Biomarker: BRAF Oncogenic Mutations (excluding V600) Effect: drug Responsive Evidence level: LEVEL_2 Drug: Trametinib Disease: Histiocytosis The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/V600 Biomarker: BRAF V600 Effect: drug Responsive Evidence level: LEVEL_3A Drug: Dabrafenib Disease: Histiocytosis The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/V600 Biomarker: BRAF V600 Effect: drug Responsive Evidence level: LEVEL_3A Drug: Vemurafenib Disease: Histiocytosis The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 24583796 Tier 4-Hypothet. (basket match), 2 assertions
Tier 4 includes variants described as drug/prognostic biomarkers according to preclinical data
Please check the original assertions provided by each knowledgebase listed below >Reported sensitivity/response: Cobimetinib; Trametinib https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib Disease: cancer Evidence level: D - Preclinical Trust rating: 3/5 Source PMID: 23934108 https://civicdb.org/links/variants/399 Biomarker: BRAF Mutation Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib Disease: cancer Evidence level: D - Preclinical Trust rating: 4/5 Source PMID: 22169769 Others - Disease Diagnostic, 8 assertions
Alterations reported to be diagnostic biomarkers. All diagnostic biomarkers are listed here regardless of whether they refer to the cancer type of the sample under analysis.
Please check the original assertions provided by each knowledgebase listed below https://oncokb.org/#/gene/BRAF/alteration/Oncogenic Mutations Biomarker: BRAF Oncogenic Mutations Effect: diagnostic Evidence level: LEVEL_Dx3 Drug: - Disease: Early T-Cell Precursor Lymphoblastic Leukemia The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: diagnostic Evidence level: LEVEL_Dx2 Drug: - Disease: Langerhans Cell Histiocytosis The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: diagnostic Evidence level: LEVEL_Dx2 Drug: - Disease: Hairy Cell Leukemia The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: diagnostic Evidence level: LEVEL_Dx3 Drug: - Disease: Erdheim-Chester Disease The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Positive Drug: n/a Disease: hairy cell leukemia Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 21663470 https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Positive Drug: n/a Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 21166657 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Positive Drug: n/a Disease: thyroid cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 21594703 https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Positive Drug: n/a Disease: thyroid gland papillary carcinoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 24570209 |
|
PDGFRA
|
OG
Oncogene
This gene acts (predominantly) as an oncogene, and thus activating alterations are the main drivers. Gene mechanism of action has been determined based on the Cancer Gene Census, the 20/20 rule and manual curation. |
Mutation
missense
p.Asp842Val
exon 18/23
more
chr4:55152093 A/T (GRCh37/hg19)
Transcript: ENST00000257290 HGVSp: ENSP00000257290.5:p.Asp842Val HGVSc: ENST00000257290.5:c.2525A>T Location: exon 18/23 Consequence: missense variant Representative Transcript ──────────────────────── Transcript: ENST00000507166 HGVSp: ENSP00000423325.1:p.Asp602Val HGVSc: ENST00000507166.1:c.1805A>T Location: exon 19/24 Consequence: missense variant ──────────────────────── Transcript: ENST00000507536 HGVSp: - HGVSc: - Location: - Consequence: downstream gene variant ──────────────────────── Transcript: ENST00000509490 HGVSp: - HGVSc: - Location: - Consequence: downstream gene variant |
Evidence A (curated):
>Oncogenic, Biomarker, OncoKB
PDGFRA p.Asp842Val https://oncokb.org/#/gene/PDGFRA/alteration/D842V Effect: Oncogenic, Biomarker The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. >Resistance, Sensitivity/Response, CIViC
PDGFRA p.Asp842Val https://civicdb.org/links/variants/99 Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Negative Drug: n/a Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 15146165 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 15928335 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 16954519 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 26130666 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Sunitinib Disease: gastrointestinal stromal tumor Evidence level: C - Case study Trust rating: 3/5 Source PMID: 18955458 https://civicdb.org/links/variants/3274 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: C - Case study Trust rating: 3/5 Source PMID: 14645423 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: D - Preclinical Trust rating: 3/5 Source PMID: 12949711 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Crenolanib Disease: gastrointestinal stromal tumor Evidence level: D - Preclinical Trust rating: 4/5 Source PMID: 22745105
Inconclusive curation:
>Inconclusive/weaker evidence, ClinVar
PDGFRA p.Asp842Val https://www.ncbi.nlm.nih.gov/clinvar/variation/13543 Effect: Conflicting classifications of pathogenicity Allele origin: PDGFRA Review status: no assertion criteria provided |
Tier 1-Ready for use, 7 assertions
Tier 1 includes variants described as drug/prognostic biomarkers with ready-for-use clinical data for this cancer type
Please check the original assertions provided by each knowledgebase listed below >Reported sensitivity/response: Avapritinib; Dasatinib; Imatinib; Regorafenib; Ripretinib; Sunitinib https://oncokb.org/#/gene/PDGFRA/alteration/D842V Biomarker: PDGFRA D842V Effect: drug Responsive Evidence level: LEVEL_2 Drug: Dasatinib Disease: Gastrointestinal Stromal Tumor The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/PDGFRA/alteration/Exon 18 missense mutations, Exon 18 in-frame deletions, Exon 18 in-frame insertions Biomarker: PDGFRA Exon 18 missense mutations, Exon 18 in-frame deletions, Exon 18 in-frame insertions Effect: drug Responsive Evidence level: LEVEL_1 Drug: Avapritinib Disease: Gastrointestinal Stromal Tumor The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/PDGFRA/alteration/D842V Biomarker: PDGFRA D842V Effect: drug Resistance Evidence level: LEVEL_R1 Drug: Imatinib Disease: Gastrointestinal Stromal Tumor The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/PDGFRA/alteration/Oncogenic Mutations Biomarker: PDGFRA Oncogenic Mutations Effect: drug Responsive Evidence level: LEVEL_2 Drug: Imatinib Disease: Gastrointestinal Stromal Tumor The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/PDGFRA/alteration/Oncogenic Mutations Biomarker: PDGFRA Oncogenic Mutations Effect: drug Responsive Evidence level: LEVEL_2 Drug: Regorafenib Disease: Gastrointestinal Stromal Tumor The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/PDGFRA/alteration/Oncogenic Mutations Biomarker: PDGFRA Oncogenic Mutations Effect: drug Responsive Evidence level: LEVEL_2 Drug: Ripretinib Disease: Gastrointestinal Stromal Tumor The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. https://oncokb.org/#/gene/PDGFRA/alteration/Oncogenic Mutations Biomarker: PDGFRA Oncogenic Mutations Effect: drug Responsive Evidence level: LEVEL_2 Drug: Sunitinib Disease: Gastrointestinal Stromal Tumor The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. Tier 2-Investigational, 3 assertions
Tier 2 includes variants described as drug/prognostic biomarkers according to investigational clinical data for this cancer type
Please check the original assertions provided by each knowledgebase listed below >Reported sensitivity/response: Imatinib https://civicdb.org/links/variants/99 Biomarker: PDGFRA D842V Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 15928335 https://civicdb.org/links/variants/99 Biomarker: PDGFRA D842V Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 16954519 https://civicdb.org/links/variants/99 Biomarker: PDGFRA D842V Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 26130666 Tier 2b-Investig. (case reports), 2 assertions
Tier 2b includes variants described as drug/prognostic biomarkers according to clinical data reported in case reports matching this cancer type
Please check the original assertions provided by each knowledgebase listed below >Reported sensitivity/response: Imatinib; Sunitinib https://civicdb.org/links/variants/99 Biomarker: PDGFRA D842V Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Sunitinib Disease: gastrointestinal stromal tumor Evidence level: C - Case study Trust rating: 3/5 Source PMID: 18955458 https://civicdb.org/links/variants/3274 Biomarker: PDGFRA Mutation Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: C - Case study Trust rating: 3/5 Source PMID: 14645423 Tier 4-Hypothetical, 2 assertions
Tier 4 includes variants described as drug/prognostic biomarkers according to preclinical data
Please check the original assertions provided by each knowledgebase listed below >Reported sensitivity/response: Crenolanib; Imatinib https://civicdb.org/links/variants/99 Biomarker: PDGFRA D842V Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: D - Preclinical Trust rating: 3/5 Source PMID: 12949711 https://civicdb.org/links/variants/99 Biomarker: PDGFRA D842V Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Crenolanib Disease: gastrointestinal stromal tumor Evidence level: D - Preclinical Trust rating: 4/5 Source PMID: 22745105 Others - Disease Diagnostic, 1 assertions
Alterations reported to be diagnostic biomarkers. All diagnostic biomarkers are listed here regardless of whether they refer to the cancer type of the sample under analysis.
Please check the original assertions provided by each knowledgebase listed below https://civicdb.org/links/variants/99 Biomarker: PDGFRA D842V Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Negative Drug: n/a Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 15146165 |
Variants of unknown/contradictory functional significance: 1
| Gene | Gene Info | Alteration | Functional relevance evidence | Reported biomarker(s) |
|---|---|---|---|---|
|
KIT
|
OG
Oncogene
This gene acts (predominantly) as an oncogene, and thus activating alterations are the main drivers. Gene mechanism of action has been determined based on the Cancer Gene Census, the 20/20 rule and manual curation. |
Mutation
missense
p.Val530Ile
exon 10/21
more
chr4:55593431 G/A (GRCh37/hg19)
Transcript: ENST00000288135 HGVSp: ENSP00000288135.5:p.Val530Ile HGVSc: ENST00000288135.5:c.1588G>A Location: exon 10/21 Consequence: missense variant Representative Transcript ──────────────────────── Transcript: ENST00000412167 HGVSp: ENSP00000390987.2:p.Val526Ile HGVSc: ENST00000412167.2:c.1576G>A Location: exon 10/21 Consequence: missense variant ──────────────────────── Transcript: ENST00000512959 HGVSp: - HGVSc: - Location: - Consequence: upstream gene variant |
Inconclusive curation:
>Population AF<1%, gnomAD/1000G
KIT p.Val530Ile This variant is observed across population databases with max AF< 1% (0.0015), which is the threshold used to assume that the variant should be neutral gnomAD combined population: 0.0005493 gnomAD African/African American: 0.001107 gnomAD Ashkenazi Jewish: 9.925e-05 gnomAD East Asian: 0 gnomAD European (Finnish): 0 gnomAD European (non-Finnish): 0.0008366 gnomAD South Asian: 0 gnomAD Other: 0.0006532 1000G European: 0.001 1000G African: 0 1000G American: 0.0015 1000G East Asian: 0 1000G South Asian: 0 >Inconclusive/weaker evidence, ClinVar
KIT p.Val530Ile https://www.ncbi.nlm.nih.gov/clinvar/variation/134621 Effect: Conflicting classifications of pathogenicity Allele origin: KIT Review status: criteria provided, conflicting classifications >No conclusive criteria, more
KIT p.Val530Ile No conclusive effect for this variant is reported by the knowledgebases employed here. No biological bona fide assumption or bioinformatic prediction (see PMID: 35221333) applies and/or is conclusive to classify the variant. |
Not contemplated
Potential match with cancer biomarkers is only contemplated for variants that are classified as functionally relevant.
|
Putative functionally neutral variants: 1
| Gene | Gene Info | Alteration | Functional relevance evidence | Reported biomarker(s) |
|---|---|---|---|---|
|
PALB2
|
TS
Tumor Suppressor
This gene acts (predominantly) as a tumor suppressor, and thus loss-of-function (or dominant-negative) alterations are the main drivers. Gene mechanism of action has been determined based on the Cancer Gene Census, the 20/20 rule and manual curation. Secondary Findings
Pathogenic variants of germline origin in This gene are recommended to be reported as secondary findings by the Cancer Core Europe consensus when appropriate. |
Mutation
missense
p.Lys30Asn
exon 2/13
more
chr16:23649409 C/G (GRCh37/hg19)
Transcript: ENST00000261584 HGVSp: ENSP00000261584.4:p.Lys30Asn HGVSc: ENST00000261584.4:c.90G>C Location: exon 2/13 Consequence: missense variant Representative Transcript ──────────────────────── Transcript: ENST00000300087 HGVSp: - HGVSc: - Location: - Consequence: upstream gene variant Representative Transcript ──────────────────────── Transcript: ENST00000561514 HGVSp: ENSP00000460666.1:p.Lys32Asn HGVSc: ENST00000561514.1:c.96G>C Location: exon 2/4 Consequence: missense variant ──────────────────────── Transcript: ENST00000563188 HGVSp: - HGVSc: - Location: - Consequence: upstream gene variant ──────────────────────── Transcript: ENST00000563998 HGVSp: - HGVSc: - Location: - Consequence: upstream gene variant ──────────────────────── Transcript: ENST00000565038 HGVSp: - HGVSc: - Location: - Consequence: upstream gene variant ──────────────────────── Transcript: ENST00000566053 HGVSp: - HGVSc: - Location: - Consequence: upstream gene variant ──────────────────────── Transcript: ENST00000566298 HGVSp: - HGVSc: - Location: - Consequence: upstream gene variant ──────────────────────── Transcript: ENST00000567003 HGVSp: - HGVSc: ENST00000567003.1:c.*140G>C Location: exon 3/5 Consequence: 3 prime UTR variant,NMD transcript variant ──────────────────────── Transcript: ENST00000568219 HGVSp: ENSP00000454703.1:p.Asp25His HGVSc: ENST00000568219.1:c.73G>C Location: exon 2/13 Consequence: missense variant,NMD transcript variant ──────────────────────── Transcript: ENST00000568272 HGVSp: - HGVSc: - Location: - Consequence: upstream gene variant ──────────────────────── Transcript: ENST00000568589 HGVSp: - HGVSc: - Location: - Consequence: upstream gene variant |
Evidence A (curated):
>Likely Neutral, OncoKB
PALB2 p.Lys30Asn https://oncokb.org/#/gene/PALB2/alteration/K30N Effect: Likely Neutral The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information.
Inconclusive curation:
>Inconclusive/weaker evidence, ClinVar
PALB2 p.Lys30Asn https://www.ncbi.nlm.nih.gov/clinvar/variation/126779 Effect: Uncertain significance Allele origin: PALB2 Review status: no assertion criteria provided |
Not contemplated
Potential match with cancer biomarkers is only contemplated for variants that are classified as functionally relevant.
|
Tier 1 - Ready for use biomarkers: 2
| Gene | Gene Info | Alteration | Functional relevance evidence | Biomarker |
|---|---|---|---|---|
|
PDGFRA
|
OG
Oncogene
This gene acts (predominantly) as an oncogene, and thus activating alterations are the main drivers. Gene mechanism of action has been determined based on the Cancer Gene Census, the 20/20 rule and manual curation. |
Mutation
missense
p.Asp842Val
exon 18/23
more
chr4:55152093 A/T (GRCh37/hg19)
Transcript: ENST00000257290 HGVSp: ENSP00000257290.5:p.Asp842Val HGVSc: ENST00000257290.5:c.2525A>T Location: exon 18/23 Consequence: missense variant Representative Transcript ──────────────────────── Transcript: ENST00000507166 HGVSp: ENSP00000423325.1:p.Asp602Val HGVSc: ENST00000507166.1:c.1805A>T Location: exon 19/24 Consequence: missense variant ──────────────────────── Transcript: ENST00000507536 HGVSp: - HGVSc: - Location: - Consequence: downstream gene variant ──────────────────────── Transcript: ENST00000509490 HGVSp: - HGVSc: - Location: - Consequence: downstream gene variant |
Evidence A (curated):
>Oncogenic, Biomarker, OncoKB
PDGFRA p.Asp842Val https://oncokb.org/#/gene/PDGFRA/alteration/D842V Effect: Oncogenic, Biomarker The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. >Resistance, Sensitivity/Response, CIViC
PDGFRA p.Asp842Val https://civicdb.org/links/variants/99 Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Negative Drug: n/a Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 15146165 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 15928335 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 16954519 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 26130666 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Sunitinib Disease: gastrointestinal stromal tumor Evidence level: C - Case study Trust rating: 3/5 Source PMID: 18955458 https://civicdb.org/links/variants/3274 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: C - Case study Trust rating: 3/5 Source PMID: 14645423 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: D - Preclinical Trust rating: 3/5 Source PMID: 12949711 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Crenolanib Disease: gastrointestinal stromal tumor Evidence level: D - Preclinical Trust rating: 4/5 Source PMID: 22745105
Inconclusive curation:
>Inconclusive/weaker evidence, ClinVar
PDGFRA p.Asp842Val https://www.ncbi.nlm.nih.gov/clinvar/variation/13543 Effect: Conflicting classifications of pathogenicity Allele origin: PDGFRA Review status: no assertion criteria provided |
Sensitivity/Response
> Avapritinib (OncoKB
PDGFRA p.Asp842Val Drug: Avapritinib https://oncokb.org/#/gene/PDGFRA/alteration/Exon 18 missense mutations, Exon 18 in-frame deletions, Exon 18 in-frame insertions Biomarker: PDGFRA Exon 18 missense mutations, Exon 18 in-frame deletions, Exon 18 in-frame insertions Effect: drug Responsive Evidence level: LEVEL_1 Drug: Avapritinib Disease: Gastrointestinal Stromal Tumor The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. > Dasatinib (OncoKB
PDGFRA p.Asp842Val Drug: Dasatinib https://oncokb.org/#/gene/PDGFRA/alteration/D842V Biomarker: PDGFRA D842V Effect: drug Responsive Evidence level: LEVEL_2 Drug: Dasatinib Disease: Gastrointestinal Stromal Tumor The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. > Imatinib (OncoKB
PDGFRA p.Asp842Val Drug: Imatinib 2 assertions found: https://oncokb.org/#/gene/PDGFRA/alteration/D842V Biomarker: PDGFRA D842V Effect: drug Resistance Evidence level: LEVEL_R1 Drug: Imatinib Disease: Gastrointestinal Stromal Tumor The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. ──────────────────────── https://oncokb.org/#/gene/PDGFRA/alteration/Oncogenic Mutations Biomarker: PDGFRA Oncogenic Mutations Effect: drug Responsive Evidence level: LEVEL_2 Drug: Imatinib Disease: Gastrointestinal Stromal Tumor The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. > Regorafenib (OncoKB
PDGFRA p.Asp842Val Drug: Regorafenib https://oncokb.org/#/gene/PDGFRA/alteration/Oncogenic Mutations Biomarker: PDGFRA Oncogenic Mutations Effect: drug Responsive Evidence level: LEVEL_2 Drug: Regorafenib Disease: Gastrointestinal Stromal Tumor The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. > Ripretinib (OncoKB
PDGFRA p.Asp842Val Drug: Ripretinib https://oncokb.org/#/gene/PDGFRA/alteration/Oncogenic Mutations Biomarker: PDGFRA Oncogenic Mutations Effect: drug Responsive Evidence level: LEVEL_2 Drug: Ripretinib Disease: Gastrointestinal Stromal Tumor The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. > Sunitinib (OncoKB
PDGFRA p.Asp842Val Drug: Sunitinib https://oncokb.org/#/gene/PDGFRA/alteration/Oncogenic Mutations Biomarker: PDGFRA Oncogenic Mutations Effect: drug Responsive Evidence level: LEVEL_2 Drug: Sunitinib Disease: Gastrointestinal Stromal Tumor The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. |
|
BRAF
|
OG
Oncogene
This gene acts (predominantly) as an oncogene, and thus activating alterations are the main drivers. Gene mechanism of action has been determined based on the Cancer Gene Census, the 20/20 rule and manual curation. |
Mutation
missense
p.Val600Glu
exon 15/18
more
chr7:140453136 A/T (GRCh37/hg19)
Transcript: ENST00000288602 HGVSp: ENSP00000288602.6:p.Val600Glu HGVSc: ENST00000288602.6:c.1799T>A Location: exon 15/18 Consequence: missense variant Representative Transcript ──────────────────────── Transcript: ENST00000479537 HGVSp: ENSP00000418033.1:p.Val28Glu HGVSc: ENST00000479537.1:c.83T>A Location: exon 2/6 Consequence: missense variant,NMD transcript variant ──────────────────────── Transcript: ENST00000496384 HGVSp: ENSP00000419060.1:p.Val208Glu HGVSc: ENST00000496384.2:c.623T>A Location: exon 6/10 Consequence: missense variant ──────────────────────── Transcript: ENST00000497784 HGVSp: - HGVSc: ENST00000497784.1:c.*1249T>A Location: exon 16/19 Consequence: 3 prime UTR variant,NMD transcript variant |
Evidence A (curated):
>Pathogenic/Likely pathogenic, ClinVar
BRAF p.Val600Glu https://www.ncbi.nlm.nih.gov/clinvar/variation/13961 Effect: Pathogenic/Likely pathogenic Allele origin: BRAF Review status: criteria provided, multiple submitters, no conflicts >Oncogenic, Biomarker, OncoKB
BRAF p.Val600Glu https://oncokb.org/#/gene/BRAF/alteration/V600E Effect: Oncogenic, Biomarker The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. >Diagnostic, Poor Outcome, Resistance, Sensitivity/Response, CIViC
BRAF p.Val600Glu https://civicdb.org/links/variants/12 Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Positive Drug: n/a Disease: hairy cell leukemia Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 21663470 https://civicdb.org/links/variants/17 Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Positive Drug: n/a Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 21166657 https://civicdb.org/links/variants/12 Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Positive Drug: n/a Disease: thyroid cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 21594703 https://civicdb.org/links/variants/12 Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Positive Drug: n/a Disease: thyroid gland papillary carcinoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 24570209 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 32758030 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: FOLFOX-4 Regimen,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 25666295 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 23569304 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26557775 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: lung non-small cell carcinoma Evidence level: A - Guideline Trust rating: 4/5 Source PMID: 27283860 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 25524477 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: skin melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 25399551 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: childhood pilocytic astrocytoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 25524464 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: ovarian serous carcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 26490654 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Panitumumab Disease: colorectal cancer Evidence level: C - Case study Trust rating: 3/5 Source PMID: 20619739 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: cholangiocarcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 28480077 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 22663011 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Bevacizumab,Oxaliplatin,Capecitabine Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19571295 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Irinotecan Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Oxaliplatin Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Cetuximab,Panitumumab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19001320 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Irinotecan,Vemurafenib,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 27729313 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 20818844 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: multiple myeloma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 24997557 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: thyroid gland papillary carcinoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 27460442 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib,Vemurafenib Disease: gastrointestinal neuroendocrine tumor Evidence level: C - Case study Trust rating: 3/5 Source PMID: 27048246 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib,Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 25265494 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: thyroid gland papillary carcinoma Evidence level: C - Case study Trust rating: 4/5 Source PMID: 24987354 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: skin melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 22356324 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: skin melanoma Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 21639808 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: intrahepatic cholangiocarcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 28078132 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: intrahepatic cholangiocarcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 25435907 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 28891408 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: lung non-small cell carcinoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 29320312 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: skin melanoma Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 25399551 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib,Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 25265494 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: lung non-small cell carcinoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26287849 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: langerhans-cell histiocytosis Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26287849 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Vemurafenib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26287849 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 22663011 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 22608338 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: cholangiocarcinoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 26287849 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cetuximab,Encorafenib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 28363909 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Encorafenib,Cetuximab,Alpelisib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 28363909 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 28891408 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 25265492 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib,Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 25037139 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Encorafenib,Binimetinib Disease: melanoma Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 29573941 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib,Vemurafenib Disease: melanoma Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 27480103 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Irinotecan,Vemurafenib,Panitumumab Disease: cholangiocarcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 26687137 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 23020132 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: low grade glioma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 32523649 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: ovarian cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 29320312 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Pertuzumab,Vemurafenib Disease: thyroid gland anaplastic carcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 29320312 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: laryngeal squamous cell carcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 29320312 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: thyroid gland anaplastic carcinoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26287849 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Panitumumab,Trametinib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 29431699 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 25265492 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Panitumumab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 23325582 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 23020132 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Encorafenib,Binimetinib,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 168986 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: biliary tract cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 169315 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: langerhans cell sarcoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 31513482 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cetuximab,Encorafenib,Binimetinib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 31566309 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: thyroid gland papillary carcinoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 27460442 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Encorafenib,Cetuximab Disease: colorectal cancer Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 31566309 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: thyroid gland anaplastic carcinoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 29072975 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 24508103 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Atezolizumab,Vemurafenib,Cobimetinib Disease: melanoma Evidence level: A - Guideline Trust rating: 4/5 Source PMID: 32534646 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib,Irinotecan,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 147167 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 20619739 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Chemotherapy,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 20619739 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Oxaliplatin Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Irinotecan Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Bevacizumab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 24583796 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib Disease: cancer Evidence level: D - Preclinical Trust rating: 3/5 Source PMID: 23934108 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib Disease: cancer Evidence level: D - Preclinical Trust rating: 4/5 Source PMID: 22169769
Inconclusive curation:
>Population AF<1%, gnomAD/1000G
BRAF p.Val600Glu This variant is observed across population databases with max AF< 1% (3.267e-05), which is the threshold used to assume that the variant should be neutral gnomAD combined population: 3.98e-06 gnomAD African/African American: 0 gnomAD Ashkenazi Jewish: 0 gnomAD East Asian: 0 gnomAD European (Finnish): 0 gnomAD European (non-Finnish): 0 gnomAD South Asian: 0 gnomAD Other: 0 1000G European: - 1000G African: - 1000G American: - 1000G East Asian: - 1000G South Asian: - >Inconclusive/weaker evidence, ClinVar
BRAF p.Val600Glu https://www.ncbi.nlm.nih.gov/clinvar/variation/376069 Effect: Likely pathogenic Allele origin: BRAF Review status: no assertion criteria provided |
Sensitivity/Response (basket match)
This biomarker is reported to be pan-cancer, and thus it is matched regardless of the tumor type of the sample under analysis.
> Cobimetinib (CIViC
BRAF p.Val600Glu Drug: Cobimetinib https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib Disease: cancer Evidence level: D - Preclinical Trust rating: 3/5 Source PMID: 23934108 > Dabrafenib; Trametinib (OncoKB
BRAF p.Val600Glu Drug: Dabrafenib; Trametinib https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_1 Drug: Dabrafenib;Trametinib Disease: SOLID (excluding Colorectal Cancer) The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. > Trametinib (CIViC
BRAF p.Val600Glu Drug: Trametinib https://civicdb.org/links/variants/399 Biomarker: BRAF Mutation Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib Disease: cancer Evidence level: D - Preclinical Trust rating: 4/5 Source PMID: 22169769 > Trametinib;Dabrafenib (CIViC
BRAF p.Val600Glu Drug: Trametinib;Dabrafenib https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 32758030 |
Special - Other biomarkers of clinical interest: 2
| Gene | Gene Info | Alteration | Functional relevance evidence | Biomarker |
|---|---|---|---|---|
|
PDGFRA
|
OG
Oncogene
This gene acts (predominantly) as an oncogene, and thus activating alterations are the main drivers. Gene mechanism of action has been determined based on the Cancer Gene Census, the 20/20 rule and manual curation. |
Mutation
missense
p.Asp842Val
exon 18/23
more
chr4:55152093 A/T (GRCh37/hg19)
Transcript: ENST00000257290 HGVSp: ENSP00000257290.5:p.Asp842Val HGVSc: ENST00000257290.5:c.2525A>T Location: exon 18/23 Consequence: missense variant Representative Transcript ──────────────────────── Transcript: ENST00000507166 HGVSp: ENSP00000423325.1:p.Asp602Val HGVSc: ENST00000507166.1:c.1805A>T Location: exon 19/24 Consequence: missense variant ──────────────────────── Transcript: ENST00000507536 HGVSp: - HGVSc: - Location: - Consequence: downstream gene variant ──────────────────────── Transcript: ENST00000509490 HGVSp: - HGVSc: - Location: - Consequence: downstream gene variant |
Evidence A (curated):
>Oncogenic, Biomarker, OncoKB
PDGFRA p.Asp842Val https://oncokb.org/#/gene/PDGFRA/alteration/D842V Effect: Oncogenic, Biomarker The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. >Resistance, Sensitivity/Response, CIViC
PDGFRA p.Asp842Val https://civicdb.org/links/variants/99 Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Negative Drug: n/a Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 15146165 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 15928335 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 16954519 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 26130666 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Sunitinib Disease: gastrointestinal stromal tumor Evidence level: C - Case study Trust rating: 3/5 Source PMID: 18955458 https://civicdb.org/links/variants/3274 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: C - Case study Trust rating: 3/5 Source PMID: 14645423 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: D - Preclinical Trust rating: 3/5 Source PMID: 12949711 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Crenolanib Disease: gastrointestinal stromal tumor Evidence level: D - Preclinical Trust rating: 4/5 Source PMID: 22745105
Inconclusive curation:
>Inconclusive/weaker evidence, ClinVar
PDGFRA p.Asp842Val https://www.ncbi.nlm.nih.gov/clinvar/variation/13543 Effect: Conflicting classifications of pathogenicity Allele origin: PDGFRA Review status: no assertion criteria provided |
Others - Disease diagnostic
Alterations reported to be diagnostic biomarkers are included here regardless of the cancer type stated for the sample under analysis.
> Gastrointestinal Stromal Tumor (CIViC
PDGFRA p.Asp842Val Disease: Gastrointestinal Stromal Tumor https://civicdb.org/links/variants/99 Biomarker: PDGFRA D842V Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Negative Drug: n/a Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 15146165 |
|
BRAF
|
OG
Oncogene
This gene acts (predominantly) as an oncogene, and thus activating alterations are the main drivers. Gene mechanism of action has been determined based on the Cancer Gene Census, the 20/20 rule and manual curation. |
Mutation
missense
p.Val600Glu
exon 15/18
more
chr7:140453136 A/T (GRCh37/hg19)
Transcript: ENST00000288602 HGVSp: ENSP00000288602.6:p.Val600Glu HGVSc: ENST00000288602.6:c.1799T>A Location: exon 15/18 Consequence: missense variant Representative Transcript ──────────────────────── Transcript: ENST00000479537 HGVSp: ENSP00000418033.1:p.Val28Glu HGVSc: ENST00000479537.1:c.83T>A Location: exon 2/6 Consequence: missense variant,NMD transcript variant ──────────────────────── Transcript: ENST00000496384 HGVSp: ENSP00000419060.1:p.Val208Glu HGVSc: ENST00000496384.2:c.623T>A Location: exon 6/10 Consequence: missense variant ──────────────────────── Transcript: ENST00000497784 HGVSp: - HGVSc: ENST00000497784.1:c.*1249T>A Location: exon 16/19 Consequence: 3 prime UTR variant,NMD transcript variant |
Evidence A (curated):
>Pathogenic/Likely pathogenic, ClinVar
BRAF p.Val600Glu https://www.ncbi.nlm.nih.gov/clinvar/variation/13961 Effect: Pathogenic/Likely pathogenic Allele origin: BRAF Review status: criteria provided, multiple submitters, no conflicts >Oncogenic, Biomarker, OncoKB
BRAF p.Val600Glu https://oncokb.org/#/gene/BRAF/alteration/V600E Effect: Oncogenic, Biomarker The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. >Diagnostic, Poor Outcome, Resistance, Sensitivity/Response, CIViC
BRAF p.Val600Glu https://civicdb.org/links/variants/12 Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Positive Drug: n/a Disease: hairy cell leukemia Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 21663470 https://civicdb.org/links/variants/17 Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Positive Drug: n/a Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 21166657 https://civicdb.org/links/variants/12 Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Positive Drug: n/a Disease: thyroid cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 21594703 https://civicdb.org/links/variants/12 Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Positive Drug: n/a Disease: thyroid gland papillary carcinoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 24570209 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 32758030 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: FOLFOX-4 Regimen,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 25666295 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 23569304 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26557775 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: lung non-small cell carcinoma Evidence level: A - Guideline Trust rating: 4/5 Source PMID: 27283860 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 25524477 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: skin melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 25399551 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: childhood pilocytic astrocytoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 25524464 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: ovarian serous carcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 26490654 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Panitumumab Disease: colorectal cancer Evidence level: C - Case study Trust rating: 3/5 Source PMID: 20619739 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: cholangiocarcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 28480077 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 22663011 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Bevacizumab,Oxaliplatin,Capecitabine Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19571295 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Irinotecan Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Oxaliplatin Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Cetuximab,Panitumumab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19001320 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Irinotecan,Vemurafenib,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 27729313 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 20818844 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: multiple myeloma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 24997557 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: thyroid gland papillary carcinoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 27460442 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib,Vemurafenib Disease: gastrointestinal neuroendocrine tumor Evidence level: C - Case study Trust rating: 3/5 Source PMID: 27048246 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib,Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 25265494 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: thyroid gland papillary carcinoma Evidence level: C - Case study Trust rating: 4/5 Source PMID: 24987354 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: skin melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 22356324 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: skin melanoma Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 21639808 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: intrahepatic cholangiocarcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 28078132 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: intrahepatic cholangiocarcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 25435907 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 28891408 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: lung non-small cell carcinoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 29320312 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: skin melanoma Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 25399551 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib,Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 25265494 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: lung non-small cell carcinoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26287849 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: langerhans-cell histiocytosis Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26287849 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Vemurafenib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26287849 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 22663011 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 22608338 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: cholangiocarcinoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 26287849 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cetuximab,Encorafenib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 28363909 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Encorafenib,Cetuximab,Alpelisib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 28363909 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 28891408 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 25265492 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib,Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 25037139 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Encorafenib,Binimetinib Disease: melanoma Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 29573941 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib,Vemurafenib Disease: melanoma Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 27480103 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Irinotecan,Vemurafenib,Panitumumab Disease: cholangiocarcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 26687137 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 23020132 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: low grade glioma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 32523649 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: ovarian cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 29320312 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Pertuzumab,Vemurafenib Disease: thyroid gland anaplastic carcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 29320312 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: laryngeal squamous cell carcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 29320312 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: thyroid gland anaplastic carcinoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26287849 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Panitumumab,Trametinib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 29431699 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 25265492 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Panitumumab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 23325582 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 23020132 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Encorafenib,Binimetinib,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 168986 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: biliary tract cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 169315 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: langerhans cell sarcoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 31513482 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cetuximab,Encorafenib,Binimetinib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 31566309 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: thyroid gland papillary carcinoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 27460442 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Encorafenib,Cetuximab Disease: colorectal cancer Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 31566309 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: thyroid gland anaplastic carcinoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 29072975 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 24508103 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Atezolizumab,Vemurafenib,Cobimetinib Disease: melanoma Evidence level: A - Guideline Trust rating: 4/5 Source PMID: 32534646 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib,Irinotecan,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 147167 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 20619739 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Chemotherapy,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 20619739 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Oxaliplatin Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Irinotecan Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Bevacizumab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 24583796 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib Disease: cancer Evidence level: D - Preclinical Trust rating: 3/5 Source PMID: 23934108 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib Disease: cancer Evidence level: D - Preclinical Trust rating: 4/5 Source PMID: 22169769
Inconclusive curation:
>Population AF<1%, gnomAD/1000G
BRAF p.Val600Glu This variant is observed across population databases with max AF< 1% (3.267e-05), which is the threshold used to assume that the variant should be neutral gnomAD combined population: 3.98e-06 gnomAD African/African American: 0 gnomAD Ashkenazi Jewish: 0 gnomAD East Asian: 0 gnomAD European (Finnish): 0 gnomAD European (non-Finnish): 0 gnomAD South Asian: 0 gnomAD Other: 0 1000G European: - 1000G African: - 1000G American: - 1000G East Asian: - 1000G South Asian: - >Inconclusive/weaker evidence, ClinVar
BRAF p.Val600Glu https://www.ncbi.nlm.nih.gov/clinvar/variation/376069 Effect: Likely pathogenic Allele origin: BRAF Review status: no assertion criteria provided |
Others - Disease diagnostic
Alterations reported to be diagnostic biomarkers are included here regardless of the cancer type stated for the sample under analysis.
> Early T-Cell Precursor Lymphoblastic Leukemia (OncoKB
BRAF p.Val600Glu Disease: Early T-Cell Precursor Lymphoblastic Leukemia https://oncokb.org/#/gene/BRAF/alteration/Oncogenic Mutations Biomarker: BRAF Oncogenic Mutations Effect: diagnostic Evidence level: LEVEL_Dx3 Drug: - Disease: Early T-Cell Precursor Lymphoblastic Leukemia The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. > Erdheim-Chester Disease (OncoKB
BRAF p.Val600Glu Disease: Erdheim-Chester Disease https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: diagnostic Evidence level: LEVEL_Dx3 Drug: - Disease: Erdheim-Chester Disease The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. > Hairy Cell Leukemia (OncoKB; CIViC
BRAF p.Val600Glu Disease: Hairy Cell Leukemia 2 assertions found: https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: diagnostic Evidence level: LEVEL_Dx2 Drug: - Disease: Hairy Cell Leukemia The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. ──────────────────────── https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Positive Drug: n/a Disease: hairy cell leukemia Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 21663470 > Langerhans Cell Histiocytosis (OncoKB
BRAF p.Val600Glu Disease: Langerhans Cell Histiocytosis https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: diagnostic Evidence level: LEVEL_Dx2 Drug: - Disease: Langerhans Cell Histiocytosis The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. > Melanoma (CIViC
BRAF p.Val600Glu Disease: Melanoma https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Positive Drug: n/a Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 21166657 > Thyroid Cancer (CIViC
BRAF p.Val600Glu Disease: Thyroid Cancer https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Positive Drug: n/a Disease: thyroid cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 21594703 > Thyroid Gland Papillary Carcinoma (CIViC
BRAF p.Val600Glu Disease: Thyroid Gland Papillary Carcinoma https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Positive Drug: n/a Disease: thyroid gland papillary carcinoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 24570209 |
Tier 2 - Investigational biomarkers: 3
| Gene | Gene Info | Alteration | Functional relevance evidence | Biomarker |
|---|---|---|---|---|
|
PDGFRA
|
OG
Oncogene
This gene acts (predominantly) as an oncogene, and thus activating alterations are the main drivers. Gene mechanism of action has been determined based on the Cancer Gene Census, the 20/20 rule and manual curation. |
Mutation
missense
p.Asp842Val
exon 18/23
more
chr4:55152093 A/T (GRCh37/hg19)
Transcript: ENST00000257290 HGVSp: ENSP00000257290.5:p.Asp842Val HGVSc: ENST00000257290.5:c.2525A>T Location: exon 18/23 Consequence: missense variant Representative Transcript ──────────────────────── Transcript: ENST00000507166 HGVSp: ENSP00000423325.1:p.Asp602Val HGVSc: ENST00000507166.1:c.1805A>T Location: exon 19/24 Consequence: missense variant ──────────────────────── Transcript: ENST00000507536 HGVSp: - HGVSc: - Location: - Consequence: downstream gene variant ──────────────────────── Transcript: ENST00000509490 HGVSp: - HGVSc: - Location: - Consequence: downstream gene variant |
Evidence A (curated):
>Oncogenic, Biomarker, OncoKB
PDGFRA p.Asp842Val https://oncokb.org/#/gene/PDGFRA/alteration/D842V Effect: Oncogenic, Biomarker The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. >Resistance, Sensitivity/Response, CIViC
PDGFRA p.Asp842Val https://civicdb.org/links/variants/99 Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Negative Drug: n/a Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 15146165 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 15928335 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 16954519 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 26130666 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Sunitinib Disease: gastrointestinal stromal tumor Evidence level: C - Case study Trust rating: 3/5 Source PMID: 18955458 https://civicdb.org/links/variants/3274 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: C - Case study Trust rating: 3/5 Source PMID: 14645423 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: D - Preclinical Trust rating: 3/5 Source PMID: 12949711 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Crenolanib Disease: gastrointestinal stromal tumor Evidence level: D - Preclinical Trust rating: 4/5 Source PMID: 22745105
Inconclusive curation:
>Inconclusive/weaker evidence, ClinVar
PDGFRA p.Asp842Val https://www.ncbi.nlm.nih.gov/clinvar/variation/13543 Effect: Conflicting classifications of pathogenicity Allele origin: PDGFRA Review status: no assertion criteria provided |
Sensitivity/Response (case reports)
> Imatinib (CIViC
PDGFRA p.Asp842Val Drug: Imatinib https://civicdb.org/links/variants/3274 Biomarker: PDGFRA Mutation Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: C - Case study Trust rating: 3/5 Source PMID: 14645423 > Sunitinib (CIViC
PDGFRA p.Asp842Val Drug: Sunitinib https://civicdb.org/links/variants/99 Biomarker: PDGFRA D842V Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Sunitinib Disease: gastrointestinal stromal tumor Evidence level: C - Case study Trust rating: 3/5 Source PMID: 18955458 Sensitivity/Response
> Imatinib (CIViC
PDGFRA p.Asp842Val Drug: Imatinib 3 assertions found: https://civicdb.org/links/variants/99 Biomarker: PDGFRA D842V Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 15928335 ──────────────────────── https://civicdb.org/links/variants/99 Biomarker: PDGFRA D842V Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 16954519 ──────────────────────── https://civicdb.org/links/variants/99 Biomarker: PDGFRA D842V Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 26130666 |
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PDGFRA
|
OG
Oncogene
This gene acts (predominantly) as an oncogene, and thus activating alterations are the main drivers. Gene mechanism of action has been determined based on the Cancer Gene Census, the 20/20 rule and manual curation. |
Mutation
missense
p.Asp842Val
exon 18/23
more
chr4:55152093 A/T (GRCh37/hg19)
Transcript: ENST00000257290 HGVSp: ENSP00000257290.5:p.Asp842Val HGVSc: ENST00000257290.5:c.2525A>T Location: exon 18/23 Consequence: missense variant Representative Transcript ──────────────────────── Transcript: ENST00000507166 HGVSp: ENSP00000423325.1:p.Asp602Val HGVSc: ENST00000507166.1:c.1805A>T Location: exon 19/24 Consequence: missense variant ──────────────────────── Transcript: ENST00000507536 HGVSp: - HGVSc: - Location: - Consequence: downstream gene variant ──────────────────────── Transcript: ENST00000509490 HGVSp: - HGVSc: - Location: - Consequence: downstream gene variant |
Evidence A (curated):
>Oncogenic, Biomarker, OncoKB
PDGFRA p.Asp842Val https://oncokb.org/#/gene/PDGFRA/alteration/D842V Effect: Oncogenic, Biomarker The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. >Resistance, Sensitivity/Response, CIViC
PDGFRA p.Asp842Val https://civicdb.org/links/variants/99 Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Negative Drug: n/a Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 15146165 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 15928335 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 16954519 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 26130666 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Sunitinib Disease: gastrointestinal stromal tumor Evidence level: C - Case study Trust rating: 3/5 Source PMID: 18955458 https://civicdb.org/links/variants/3274 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: C - Case study Trust rating: 3/5 Source PMID: 14645423 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: D - Preclinical Trust rating: 3/5 Source PMID: 12949711 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Crenolanib Disease: gastrointestinal stromal tumor Evidence level: D - Preclinical Trust rating: 4/5 Source PMID: 22745105
Inconclusive curation:
>Inconclusive/weaker evidence, ClinVar
PDGFRA p.Asp842Val https://www.ncbi.nlm.nih.gov/clinvar/variation/13543 Effect: Conflicting classifications of pathogenicity Allele origin: PDGFRA Review status: no assertion criteria provided |
Sensitivity/Response (case reports)
> Imatinib (CIViC
PDGFRA p.Asp842Val Drug: Imatinib https://civicdb.org/links/variants/3274 Biomarker: PDGFRA Mutation Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: C - Case study Trust rating: 3/5 Source PMID: 14645423 > Sunitinib (CIViC
PDGFRA p.Asp842Val Drug: Sunitinib https://civicdb.org/links/variants/99 Biomarker: PDGFRA D842V Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Sunitinib Disease: gastrointestinal stromal tumor Evidence level: C - Case study Trust rating: 3/5 Source PMID: 18955458 Sensitivity/Response
> Imatinib (CIViC
PDGFRA p.Asp842Val Drug: Imatinib 3 assertions found: https://civicdb.org/links/variants/99 Biomarker: PDGFRA D842V Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 15928335 ──────────────────────── https://civicdb.org/links/variants/99 Biomarker: PDGFRA D842V Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 16954519 ──────────────────────── https://civicdb.org/links/variants/99 Biomarker: PDGFRA D842V Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 26130666 |
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BRAF
|
OG
Oncogene
This gene acts (predominantly) as an oncogene, and thus activating alterations are the main drivers. Gene mechanism of action has been determined based on the Cancer Gene Census, the 20/20 rule and manual curation. |
Mutation
missense
p.Val600Glu
exon 15/18
more
chr7:140453136 A/T (GRCh37/hg19)
Transcript: ENST00000288602 HGVSp: ENSP00000288602.6:p.Val600Glu HGVSc: ENST00000288602.6:c.1799T>A Location: exon 15/18 Consequence: missense variant Representative Transcript ──────────────────────── Transcript: ENST00000479537 HGVSp: ENSP00000418033.1:p.Val28Glu HGVSc: ENST00000479537.1:c.83T>A Location: exon 2/6 Consequence: missense variant,NMD transcript variant ──────────────────────── Transcript: ENST00000496384 HGVSp: ENSP00000419060.1:p.Val208Glu HGVSc: ENST00000496384.2:c.623T>A Location: exon 6/10 Consequence: missense variant ──────────────────────── Transcript: ENST00000497784 HGVSp: - HGVSc: ENST00000497784.1:c.*1249T>A Location: exon 16/19 Consequence: 3 prime UTR variant,NMD transcript variant |
Evidence A (curated):
>Pathogenic/Likely pathogenic, ClinVar
BRAF p.Val600Glu https://www.ncbi.nlm.nih.gov/clinvar/variation/13961 Effect: Pathogenic/Likely pathogenic Allele origin: BRAF Review status: criteria provided, multiple submitters, no conflicts >Oncogenic, Biomarker, OncoKB
BRAF p.Val600Glu https://oncokb.org/#/gene/BRAF/alteration/V600E Effect: Oncogenic, Biomarker The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. >Diagnostic, Poor Outcome, Resistance, Sensitivity/Response, CIViC
BRAF p.Val600Glu https://civicdb.org/links/variants/12 Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Positive Drug: n/a Disease: hairy cell leukemia Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 21663470 https://civicdb.org/links/variants/17 Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Positive Drug: n/a Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 21166657 https://civicdb.org/links/variants/12 Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Positive Drug: n/a Disease: thyroid cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 21594703 https://civicdb.org/links/variants/12 Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Positive Drug: n/a Disease: thyroid gland papillary carcinoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 24570209 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 32758030 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: FOLFOX-4 Regimen,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 25666295 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 23569304 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26557775 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: lung non-small cell carcinoma Evidence level: A - Guideline Trust rating: 4/5 Source PMID: 27283860 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 25524477 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: skin melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 25399551 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: childhood pilocytic astrocytoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 25524464 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: ovarian serous carcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 26490654 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Panitumumab Disease: colorectal cancer Evidence level: C - Case study Trust rating: 3/5 Source PMID: 20619739 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: cholangiocarcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 28480077 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 22663011 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Bevacizumab,Oxaliplatin,Capecitabine Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19571295 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Irinotecan Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Oxaliplatin Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Cetuximab,Panitumumab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19001320 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Irinotecan,Vemurafenib,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 27729313 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 20818844 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: multiple myeloma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 24997557 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: thyroid gland papillary carcinoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 27460442 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib,Vemurafenib Disease: gastrointestinal neuroendocrine tumor Evidence level: C - Case study Trust rating: 3/5 Source PMID: 27048246 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib,Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 25265494 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: thyroid gland papillary carcinoma Evidence level: C - Case study Trust rating: 4/5 Source PMID: 24987354 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: skin melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 22356324 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: skin melanoma Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 21639808 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: intrahepatic cholangiocarcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 28078132 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: intrahepatic cholangiocarcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 25435907 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 28891408 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: lung non-small cell carcinoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 29320312 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: skin melanoma Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 25399551 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib,Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 25265494 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: lung non-small cell carcinoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26287849 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: langerhans-cell histiocytosis Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26287849 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Vemurafenib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26287849 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 22663011 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 22608338 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: cholangiocarcinoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 26287849 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cetuximab,Encorafenib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 28363909 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Encorafenib,Cetuximab,Alpelisib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 28363909 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 28891408 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 25265492 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib,Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 25037139 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Encorafenib,Binimetinib Disease: melanoma Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 29573941 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib,Vemurafenib Disease: melanoma Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 27480103 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Irinotecan,Vemurafenib,Panitumumab Disease: cholangiocarcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 26687137 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 23020132 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: low grade glioma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 32523649 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: ovarian cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 29320312 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Pertuzumab,Vemurafenib Disease: thyroid gland anaplastic carcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 29320312 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: laryngeal squamous cell carcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 29320312 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: thyroid gland anaplastic carcinoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26287849 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Panitumumab,Trametinib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 29431699 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 25265492 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Panitumumab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 23325582 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 23020132 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Encorafenib,Binimetinib,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 168986 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: biliary tract cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 169315 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: langerhans cell sarcoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 31513482 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cetuximab,Encorafenib,Binimetinib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 31566309 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: thyroid gland papillary carcinoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 27460442 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Encorafenib,Cetuximab Disease: colorectal cancer Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 31566309 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: thyroid gland anaplastic carcinoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 29072975 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 24508103 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Atezolizumab,Vemurafenib,Cobimetinib Disease: melanoma Evidence level: A - Guideline Trust rating: 4/5 Source PMID: 32534646 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib,Irinotecan,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 147167 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 20619739 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Chemotherapy,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 20619739 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Oxaliplatin Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Irinotecan Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Bevacizumab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 24583796 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib Disease: cancer Evidence level: D - Preclinical Trust rating: 3/5 Source PMID: 23934108 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib Disease: cancer Evidence level: D - Preclinical Trust rating: 4/5 Source PMID: 22169769
Inconclusive curation:
>Population AF<1%, gnomAD/1000G
BRAF p.Val600Glu This variant is observed across population databases with max AF< 1% (3.267e-05), which is the threshold used to assume that the variant should be neutral gnomAD combined population: 3.98e-06 gnomAD African/African American: 0 gnomAD Ashkenazi Jewish: 0 gnomAD East Asian: 0 gnomAD European (Finnish): 0 gnomAD European (non-Finnish): 0 gnomAD South Asian: 0 gnomAD Other: 0 1000G European: - 1000G African: - 1000G American: - 1000G East Asian: - 1000G South Asian: - >Inconclusive/weaker evidence, ClinVar
BRAF p.Val600Glu https://www.ncbi.nlm.nih.gov/clinvar/variation/376069 Effect: Likely pathogenic Allele origin: BRAF Review status: no assertion criteria provided |
Sensitivity/Response (basket match)
This biomarker is reported to be pan-cancer, and thus it is matched regardless of the tumor type of the sample under analysis.
> Trametinib;Dabrafenib (CIViC
BRAF p.Val600Glu Drug: Trametinib;Dabrafenib https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 32758030 |
Tier 3 - Potential cancer-repurposing opportunities: 1
| Gene | Gene Info | Alteration | Functional relevance evidence | Biomarker |
|---|---|---|---|---|
|
BRAF
|
OG
Oncogene
This gene acts (predominantly) as an oncogene, and thus activating alterations are the main drivers. Gene mechanism of action has been determined based on the Cancer Gene Census, the 20/20 rule and manual curation. |
Mutation
missense
p.Val600Glu
exon 15/18
more
chr7:140453136 A/T (GRCh37/hg19)
Transcript: ENST00000288602 HGVSp: ENSP00000288602.6:p.Val600Glu HGVSc: ENST00000288602.6:c.1799T>A Location: exon 15/18 Consequence: missense variant Representative Transcript ──────────────────────── Transcript: ENST00000479537 HGVSp: ENSP00000418033.1:p.Val28Glu HGVSc: ENST00000479537.1:c.83T>A Location: exon 2/6 Consequence: missense variant,NMD transcript variant ──────────────────────── Transcript: ENST00000496384 HGVSp: ENSP00000419060.1:p.Val208Glu HGVSc: ENST00000496384.2:c.623T>A Location: exon 6/10 Consequence: missense variant ──────────────────────── Transcript: ENST00000497784 HGVSp: - HGVSc: ENST00000497784.1:c.*1249T>A Location: exon 16/19 Consequence: 3 prime UTR variant,NMD transcript variant |
Evidence A (curated):
>Pathogenic/Likely pathogenic, ClinVar
BRAF p.Val600Glu https://www.ncbi.nlm.nih.gov/clinvar/variation/13961 Effect: Pathogenic/Likely pathogenic Allele origin: BRAF Review status: criteria provided, multiple submitters, no conflicts >Oncogenic, Biomarker, OncoKB
BRAF p.Val600Glu https://oncokb.org/#/gene/BRAF/alteration/V600E Effect: Oncogenic, Biomarker The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. >Diagnostic, Poor Outcome, Resistance, Sensitivity/Response, CIViC
BRAF p.Val600Glu https://civicdb.org/links/variants/12 Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Positive Drug: n/a Disease: hairy cell leukemia Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 21663470 https://civicdb.org/links/variants/17 Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Positive Drug: n/a Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 21166657 https://civicdb.org/links/variants/12 Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Positive Drug: n/a Disease: thyroid cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 21594703 https://civicdb.org/links/variants/12 Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Positive Drug: n/a Disease: thyroid gland papillary carcinoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 24570209 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 32758030 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: FOLFOX-4 Regimen,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 25666295 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 23569304 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26557775 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: lung non-small cell carcinoma Evidence level: A - Guideline Trust rating: 4/5 Source PMID: 27283860 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 25524477 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: skin melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 25399551 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: childhood pilocytic astrocytoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 25524464 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: ovarian serous carcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 26490654 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Panitumumab Disease: colorectal cancer Evidence level: C - Case study Trust rating: 3/5 Source PMID: 20619739 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: cholangiocarcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 28480077 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 22663011 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Bevacizumab,Oxaliplatin,Capecitabine Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19571295 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Irinotecan Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Oxaliplatin Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Cetuximab,Panitumumab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19001320 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Irinotecan,Vemurafenib,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 27729313 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 20818844 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: multiple myeloma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 24997557 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: thyroid gland papillary carcinoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 27460442 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib,Vemurafenib Disease: gastrointestinal neuroendocrine tumor Evidence level: C - Case study Trust rating: 3/5 Source PMID: 27048246 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib,Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 25265494 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: thyroid gland papillary carcinoma Evidence level: C - Case study Trust rating: 4/5 Source PMID: 24987354 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: skin melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 22356324 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: skin melanoma Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 21639808 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: intrahepatic cholangiocarcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 28078132 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: intrahepatic cholangiocarcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 25435907 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 28891408 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: lung non-small cell carcinoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 29320312 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: skin melanoma Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 25399551 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib,Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 25265494 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: lung non-small cell carcinoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26287849 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: langerhans-cell histiocytosis Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26287849 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Vemurafenib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26287849 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 22663011 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 22608338 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: cholangiocarcinoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 26287849 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cetuximab,Encorafenib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 28363909 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Encorafenib,Cetuximab,Alpelisib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 28363909 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 28891408 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 25265492 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib,Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 25037139 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Encorafenib,Binimetinib Disease: melanoma Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 29573941 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib,Vemurafenib Disease: melanoma Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 27480103 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Irinotecan,Vemurafenib,Panitumumab Disease: cholangiocarcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 26687137 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 23020132 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: low grade glioma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 32523649 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: ovarian cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 29320312 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Pertuzumab,Vemurafenib Disease: thyroid gland anaplastic carcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 29320312 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: laryngeal squamous cell carcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 29320312 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: thyroid gland anaplastic carcinoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26287849 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Panitumumab,Trametinib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 29431699 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 25265492 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Panitumumab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 23325582 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 23020132 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Encorafenib,Binimetinib,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 168986 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: biliary tract cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 169315 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: langerhans cell sarcoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 31513482 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cetuximab,Encorafenib,Binimetinib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 31566309 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: thyroid gland papillary carcinoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 27460442 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Encorafenib,Cetuximab Disease: colorectal cancer Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 31566309 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: thyroid gland anaplastic carcinoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 29072975 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 24508103 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Atezolizumab,Vemurafenib,Cobimetinib Disease: melanoma Evidence level: A - Guideline Trust rating: 4/5 Source PMID: 32534646 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib,Irinotecan,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 147167 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 20619739 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Chemotherapy,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 20619739 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Oxaliplatin Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Irinotecan Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Bevacizumab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 24583796 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib Disease: cancer Evidence level: D - Preclinical Trust rating: 3/5 Source PMID: 23934108 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib Disease: cancer Evidence level: D - Preclinical Trust rating: 4/5 Source PMID: 22169769
Inconclusive curation:
>Population AF<1%, gnomAD/1000G
BRAF p.Val600Glu This variant is observed across population databases with max AF< 1% (3.267e-05), which is the threshold used to assume that the variant should be neutral gnomAD combined population: 3.98e-06 gnomAD African/African American: 0 gnomAD Ashkenazi Jewish: 0 gnomAD East Asian: 0 gnomAD European (Finnish): 0 gnomAD European (non-Finnish): 0 gnomAD South Asian: 0 gnomAD Other: 0 1000G European: - 1000G African: - 1000G American: - 1000G East Asian: - 1000G South Asian: - >Inconclusive/weaker evidence, ClinVar
BRAF p.Val600Glu https://www.ncbi.nlm.nih.gov/clinvar/variation/376069 Effect: Likely pathogenic Allele origin: BRAF Review status: no assertion criteria provided |
Sensitivity/Response
> Atezolizumab;Vemurafenib;Cobimetinib (CIViC
BRAF p.Val600Glu Drug: Atezolizumab;Vemurafenib;Cobimetinib https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Atezolizumab,Vemurafenib,Cobimetinib Disease: melanoma Evidence level: A - Guideline Trust rating: 4/5 Source PMID: 32534646 > Bevacizumab (CIViC
BRAF p.Val600Glu Drug: Bevacizumab https://civicdb.org/links/variants/399 Biomarker: BRAF Mutation Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Bevacizumab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 > Bevacizumab;Oxaliplatin;Capecitabine (CIViC
BRAF p.Val600Glu Drug: Bevacizumab;Oxaliplatin;Capecitabine https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Bevacizumab,Oxaliplatin,Capecitabine Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19571295 > Cetuximab (CIViC
BRAF p.Val600Glu Drug: Cetuximab 2 assertions found: https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 20619739 ──────────────────────── https://civicdb.org/links/variants/399 Biomarker: BRAF Mutation Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 > Cetuximab;Encorafenib (CIViC
BRAF p.Val600Glu Drug: Cetuximab;Encorafenib https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cetuximab,Encorafenib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 28363909 > Cetuximab;Encorafenib;Binimetinib (CIViC
BRAF p.Val600Glu Drug: Cetuximab;Encorafenib;Binimetinib https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cetuximab,Encorafenib,Binimetinib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 31566309 > Cetuximab;Panitumumab (CIViC
BRAF p.Val600Glu Drug: Cetuximab;Panitumumab https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Cetuximab,Panitumumab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19001320 > Chemotherapy;Cetuximab (CIViC
BRAF p.Val600Glu Drug: Chemotherapy;Cetuximab https://civicdb.org/links/variants/399 Biomarker: BRAF Mutation Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Chemotherapy,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 20619739 > Cobimetinib (OncoKB
BRAF p.Val600Glu Drug: Cobimetinib 4 assertions found: https://oncokb.org/#/gene/BRAF/alteration/Oncogenic Mutations (excluding V600) Biomarker: BRAF Oncogenic Mutations (excluding V600) Effect: drug Responsive Evidence level: LEVEL_3A Drug: Cobimetinib Disease: Histiocytosis The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. ──────────────────────── https://oncokb.org/#/gene/BRAF/alteration/Oncogenic Mutations (excluding V600) Biomarker: BRAF Oncogenic Mutations (excluding V600) Effect: drug Responsive Evidence level: LEVEL_2 Drug: Cobimetinib Disease: Histiocytosis The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. ──────────────────────── https://oncokb.org/#/gene/BRAF/alteration/Oncogenic Mutations (excluding V600) Biomarker: BRAF Oncogenic Mutations (excluding V600) Effect: drug Responsive Evidence level: LEVEL_2 Drug: Cobimetinib Disease: Histiocytosis The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. ──────────────────────── https://oncokb.org/#/gene/BRAF/alteration/Oncogenic Mutations (excluding V600) Biomarker: BRAF Oncogenic Mutations (excluding V600) Effect: drug Responsive Evidence level: LEVEL_2 Drug: Cobimetinib Disease: Histiocytosis The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. > Cobimetinib;Vemurafenib (CIViC
BRAF p.Val600Glu Drug: Cobimetinib;Vemurafenib 4 assertions found: https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib,Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 25265494 ──────────────────────── https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib,Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 25265494 ──────────────────────── https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib,Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 25037139 ──────────────────────── https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib,Vemurafenib Disease: melanoma Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 27480103 > Dabrafenib (CIViC; OncoKB
BRAF p.Val600Glu Drug: Dabrafenib 4 assertions found: https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 22608338 ──────────────────────── https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_1 Drug: Dabrafenib Disease: Melanoma The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. ──────────────────────── https://oncokb.org/#/gene/BRAF/alteration/V600 Biomarker: BRAF V600 Effect: drug Responsive Evidence level: LEVEL_2 Drug: Dabrafenib Disease: Histiocytosis The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. ──────────────────────── https://oncokb.org/#/gene/BRAF/alteration/V600 Biomarker: BRAF V600 Effect: drug Responsive Evidence level: LEVEL_3A Drug: Dabrafenib Disease: Histiocytosis The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. > Dabrafenib; Trametinib (OncoKB
BRAF p.Val600Glu Drug: Dabrafenib; Trametinib 6 assertions found: https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_1 Drug: Dabrafenib;Trametinib Disease: Non-Small Cell Lung Cancer The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. ──────────────────────── https://oncokb.org/#/gene/BRAF/alteration/V600K, V600E Biomarker: BRAF V600K, V600E Effect: drug Responsive Evidence level: LEVEL_1 Drug: Dabrafenib;Trametinib Disease: Melanoma The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. ──────────────────────── https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_1 Drug: Dabrafenib;Trametinib Disease: Glioma The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. ──────────────────────── https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_1 Drug: Dabrafenib;Trametinib Disease: Biliary Tract Cancer The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. ──────────────────────── https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_1 Drug: Dabrafenib;Trametinib Disease: Thyroid Cancer The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. ──────────────────────── https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_1 Drug: Dabrafenib;Trametinib Disease: Hepatobiliary Cancer The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. > Dabrafenib;Panitumumab;Trametinib (CIViC
BRAF p.Val600Glu Drug: Dabrafenib;Panitumumab;Trametinib https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Panitumumab,Trametinib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 29431699 > Dabrafenib;Trametinib (CIViC
BRAF p.Val600Glu Drug: Dabrafenib;Trametinib 6 assertions found: https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: lung non-small cell carcinoma Evidence level: A - Guideline Trust rating: 4/5 Source PMID: 27283860 ──────────────────────── https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: intrahepatic cholangiocarcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 25435907 ──────────────────────── https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 23020132 ──────────────────────── https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 23020132 ──────────────────────── https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: biliary tract cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 169315 ──────────────────────── https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 24583796 > Encorafenib; Binimetinib (OncoKB
BRAF p.Val600Glu Drug: Encorafenib; Binimetinib 2 assertions found: https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_1 Drug: Encorafenib;Binimetinib Disease: Non-Small Cell Lung Cancer The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. ──────────────────────── https://oncokb.org/#/gene/BRAF/alteration/V600K, V600E Biomarker: BRAF V600K, V600E Effect: drug Responsive Evidence level: LEVEL_1 Drug: Encorafenib;Binimetinib Disease: Melanoma The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. > Encorafenib; Cetuximab (OncoKB
BRAF p.Val600Glu Drug: Encorafenib; Cetuximab https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_1 Drug: Encorafenib;Cetuximab Disease: Colorectal Cancer The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. > Encorafenib; Cetuximab; FOLFOX Regimen (OncoKB
BRAF p.Val600Glu Drug: Encorafenib; Cetuximab; FOLFOX Regimen https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_1 Drug: Encorafenib;Cetuximab;FOLFOX Regimen Disease: Colorectal Cancer The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. > Encorafenib; Panitumumab (OncoKB
BRAF p.Val600Glu Drug: Encorafenib; Panitumumab https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_2 Drug: Encorafenib;Panitumumab Disease: Colorectal Cancer The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. > Encorafenib;Binimetinib (CIViC
BRAF p.Val600Glu Drug: Encorafenib;Binimetinib https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Encorafenib,Binimetinib Disease: melanoma Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 29573941 > Encorafenib;Binimetinib;Cetuximab (CIViC
BRAF p.Val600Glu Drug: Encorafenib;Binimetinib;Cetuximab https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Encorafenib,Binimetinib,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 168986 > Encorafenib;Cetuximab (CIViC
BRAF p.Val600Glu Drug: Encorafenib;Cetuximab https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Encorafenib,Cetuximab Disease: colorectal cancer Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 31566309 > Encorafenib;Cetuximab;Alpelisib (CIViC
BRAF p.Val600Glu Drug: Encorafenib;Cetuximab;Alpelisib https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Encorafenib,Cetuximab,Alpelisib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 28363909 > FOLFOX-4 Regimen;Cetuximab (CIViC
BRAF p.Val600Glu Drug: FOLFOX-4 Regimen;Cetuximab https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: FOLFOX-4 Regimen,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 25666295 > Irinotecan (CIViC
BRAF p.Val600Glu Drug: Irinotecan 2 assertions found: https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Irinotecan Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 ──────────────────────── https://civicdb.org/links/variants/399 Biomarker: BRAF Mutation Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Irinotecan Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 > Irinotecan;Vemurafenib;Cetuximab (CIViC
BRAF p.Val600Glu Drug: Irinotecan;Vemurafenib;Cetuximab https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Irinotecan,Vemurafenib,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 27729313 > Irinotecan;Vemurafenib;Panitumumab (CIViC
BRAF p.Val600Glu Drug: Irinotecan;Vemurafenib;Panitumumab https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Irinotecan,Vemurafenib,Panitumumab Disease: cholangiocarcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 26687137 > Oxaliplatin (CIViC
BRAF p.Val600Glu Drug: Oxaliplatin 2 assertions found: https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Oxaliplatin Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 ──────────────────────── https://civicdb.org/links/variants/399 Biomarker: BRAF Mutation Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Oxaliplatin Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 > Panitumumab (CIViC
BRAF p.Val600Glu Drug: Panitumumab 2 assertions found: https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Panitumumab Disease: colorectal cancer Evidence level: C - Case study Trust rating: 3/5 Source PMID: 20619739 ──────────────────────── https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Panitumumab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 23325582 > Pertuzumab;Vemurafenib (CIViC
BRAF p.Val600Glu Drug: Pertuzumab;Vemurafenib https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Pertuzumab,Vemurafenib Disease: thyroid gland anaplastic carcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 29320312 > Selumetinib (OncoKB
BRAF p.Val600Glu Drug: Selumetinib https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_2 Drug: Selumetinib Disease: Glioma The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. > Tovorafenib (OncoKB
BRAF p.Val600Glu Drug: Tovorafenib https://oncokb.org/#/gene/BRAF/alteration/V600 Biomarker: BRAF V600 Effect: drug Responsive Evidence level: LEVEL_1 Drug: Tovorafenib Disease: Glioma The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. > Trametinib (CIViC; OncoKB
BRAF p.Val600Glu Drug: Trametinib 7 assertions found: https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 22663011 ──────────────────────── https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 22663011 ──────────────────────── https://oncokb.org/#/gene/BRAF/alteration/V600K, V600E Biomarker: BRAF V600K, V600E Effect: drug Responsive Evidence level: LEVEL_1 Drug: Trametinib Disease: Melanoma The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. ──────────────────────── https://oncokb.org/#/gene/BRAF/alteration/Oncogenic Mutations (excluding V600) Biomarker: BRAF Oncogenic Mutations (excluding V600) Effect: drug Responsive Evidence level: LEVEL_2 Drug: Trametinib Disease: Histiocytosis The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. ──────────────────────── https://oncokb.org/#/gene/BRAF/alteration/Oncogenic Mutations (excluding V600) Biomarker: BRAF Oncogenic Mutations (excluding V600) Effect: drug Responsive Evidence level: LEVEL_3A Drug: Trametinib Disease: Histiocytosis The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. ──────────────────────── https://oncokb.org/#/gene/BRAF/alteration/Oncogenic Mutations (excluding V600) Biomarker: BRAF Oncogenic Mutations (excluding V600) Effect: drug Responsive Evidence level: LEVEL_2 Drug: Trametinib Disease: Histiocytosis The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. ──────────────────────── https://oncokb.org/#/gene/BRAF/alteration/Oncogenic Mutations (excluding V600) Biomarker: BRAF Oncogenic Mutations (excluding V600) Effect: drug Responsive Evidence level: LEVEL_2 Drug: Trametinib Disease: Histiocytosis The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. > Trametinib;Dabrafenib (CIViC
BRAF p.Val600Glu Drug: Trametinib;Dabrafenib 9 assertions found: https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: skin melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 25399551 ──────────────────────── https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: cholangiocarcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 28480077 ──────────────────────── https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: intrahepatic cholangiocarcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 28078132 ──────────────────────── https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 28891408 ──────────────────────── https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: skin melanoma Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 25399551 ──────────────────────── https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 28891408 ──────────────────────── https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 25265492 ──────────────────────── https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 25265492 ──────────────────────── https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: thyroid gland anaplastic carcinoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 29072975 > Trametinib;Dabrafenib;Vemurafenib (CIViC
BRAF p.Val600Glu Drug: Trametinib;Dabrafenib;Vemurafenib https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib,Vemurafenib Disease: gastrointestinal neuroendocrine tumor Evidence level: C - Case study Trust rating: 3/5 Source PMID: 27048246 > Vemurafenib (CIViC; OncoKB
BRAF p.Val600Glu Drug: Vemurafenib 28 assertions found: https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 23569304 ──────────────────────── https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26557775 ──────────────────────── https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 25524477 ──────────────────────── https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: childhood pilocytic astrocytoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 25524464 ──────────────────────── https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: ovarian serous carcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 26490654 ──────────────────────── https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 20818844 ──────────────────────── https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: multiple myeloma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 24997557 ──────────────────────── https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: thyroid gland papillary carcinoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 27460442 ──────────────────────── https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: thyroid gland papillary carcinoma Evidence level: C - Case study Trust rating: 4/5 Source PMID: 24987354 ──────────────────────── https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: skin melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 22356324 ──────────────────────── https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: skin melanoma Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 21639808 ──────────────────────── https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: lung non-small cell carcinoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 29320312 ──────────────────────── https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: lung non-small cell carcinoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26287849 ──────────────────────── https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: langerhans-cell histiocytosis Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26287849 ──────────────────────── https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Vemurafenib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26287849 ──────────────────────── https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: cholangiocarcinoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 26287849 ──────────────────────── https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: low grade glioma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 32523649 ──────────────────────── https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: ovarian cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 29320312 ──────────────────────── https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: laryngeal squamous cell carcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 29320312 ──────────────────────── https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: thyroid gland anaplastic carcinoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26287849 ──────────────────────── https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: langerhans cell sarcoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 31513482 ──────────────────────── https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: thyroid gland papillary carcinoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 27460442 ──────────────────────── https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 24508103 ──────────────────────── https://oncokb.org/#/gene/BRAF/alteration/V600 Biomarker: BRAF V600 Effect: drug Responsive Evidence level: LEVEL_2 Drug: Vemurafenib Disease: Histiocytosis The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. ──────────────────────── https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_2 Drug: Vemurafenib Disease: Mature B-Cell Neoplasms The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. ──────────────────────── https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_1 Drug: Vemurafenib Disease: Melanoma The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. ──────────────────────── https://oncokb.org/#/gene/BRAF/alteration/V600 Biomarker: BRAF V600 Effect: drug Responsive Evidence level: LEVEL_1 Drug: Vemurafenib Disease: Histiocytosis The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. ──────────────────────── https://oncokb.org/#/gene/BRAF/alteration/V600 Biomarker: BRAF V600 Effect: drug Responsive Evidence level: LEVEL_3A Drug: Vemurafenib Disease: Histiocytosis The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. > Vemurafenib; Atezolizumab; Cobimetinib (OncoKB
BRAF p.Val600Glu Drug: Vemurafenib; Atezolizumab; Cobimetinib https://oncokb.org/#/gene/BRAF/alteration/V600 Biomarker: BRAF V600 Effect: drug Responsive Evidence level: LEVEL_1 Drug: Vemurafenib;Atezolizumab;Cobimetinib Disease: Melanoma The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. > Vemurafenib; Cobimetinib (OncoKB
BRAF p.Val600Glu Drug: Vemurafenib; Cobimetinib 6 assertions found: https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_2 Drug: Vemurafenib;Cobimetinib Disease: Glioma The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. ──────────────────────── https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_2 Drug: Vemurafenib;Cobimetinib Disease: Glioma (excluding Gliomas, Glioneuronal Tumors, and Neuronal Tumors, Glioma) The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. ──────────────────────── https://oncokb.org/#/gene/BRAF/alteration/V600K, V600E Biomarker: BRAF V600K, V600E Effect: drug Responsive Evidence level: LEVEL_1 Drug: Vemurafenib;Cobimetinib Disease: Melanoma The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. ──────────────────────── https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_2 Drug: Vemurafenib;Cobimetinib Disease: Glioma The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. ──────────────────────── https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_2 Drug: Vemurafenib;Cobimetinib Disease: Glioma The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. ──────────────────────── https://oncokb.org/#/gene/BRAF/alteration/V600E Biomarker: BRAF V600E Effect: drug Responsive Evidence level: LEVEL_2 Drug: Vemurafenib;Cobimetinib Disease: Glioma The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. > Vemurafenib;Irinotecan;Cetuximab (CIViC
BRAF p.Val600Glu Drug: Vemurafenib;Irinotecan;Cetuximab https://civicdb.org/links/variants/17 Biomarker: BRAF V600 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib,Irinotecan,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 147167 |
Tier 4 - Hypothetical preclinical biomarkers: 2
| Gene | Gene Info | Alteration | Functional relevance evidence | Biomarker |
|---|---|---|---|---|
|
PDGFRA
|
OG
Oncogene
This gene acts (predominantly) as an oncogene, and thus activating alterations are the main drivers. Gene mechanism of action has been determined based on the Cancer Gene Census, the 20/20 rule and manual curation. |
Mutation
missense
p.Asp842Val
exon 18/23
more
chr4:55152093 A/T (GRCh37/hg19)
Transcript: ENST00000257290 HGVSp: ENSP00000257290.5:p.Asp842Val HGVSc: ENST00000257290.5:c.2525A>T Location: exon 18/23 Consequence: missense variant Representative Transcript ──────────────────────── Transcript: ENST00000507166 HGVSp: ENSP00000423325.1:p.Asp602Val HGVSc: ENST00000507166.1:c.1805A>T Location: exon 19/24 Consequence: missense variant ──────────────────────── Transcript: ENST00000507536 HGVSp: - HGVSc: - Location: - Consequence: downstream gene variant ──────────────────────── Transcript: ENST00000509490 HGVSp: - HGVSc: - Location: - Consequence: downstream gene variant |
Evidence A (curated):
>Oncogenic, Biomarker, OncoKB
PDGFRA p.Asp842Val https://oncokb.org/#/gene/PDGFRA/alteration/D842V Effect: Oncogenic, Biomarker The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. >Resistance, Sensitivity/Response, CIViC
PDGFRA p.Asp842Val https://civicdb.org/links/variants/99 Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Negative Drug: n/a Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 15146165 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 15928335 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 16954519 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 26130666 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Sunitinib Disease: gastrointestinal stromal tumor Evidence level: C - Case study Trust rating: 3/5 Source PMID: 18955458 https://civicdb.org/links/variants/3274 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: C - Case study Trust rating: 3/5 Source PMID: 14645423 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: D - Preclinical Trust rating: 3/5 Source PMID: 12949711 https://civicdb.org/links/variants/99 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Crenolanib Disease: gastrointestinal stromal tumor Evidence level: D - Preclinical Trust rating: 4/5 Source PMID: 22745105
Inconclusive curation:
>Inconclusive/weaker evidence, ClinVar
PDGFRA p.Asp842Val https://www.ncbi.nlm.nih.gov/clinvar/variation/13543 Effect: Conflicting classifications of pathogenicity Allele origin: PDGFRA Review status: no assertion criteria provided |
Sensitivity/Response
> Crenolanib (CIViC
PDGFRA p.Asp842Val Drug: Crenolanib https://civicdb.org/links/variants/99 Biomarker: PDGFRA D842V Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Crenolanib Disease: gastrointestinal stromal tumor Evidence level: D - Preclinical Trust rating: 4/5 Source PMID: 22745105 > Imatinib (CIViC
PDGFRA p.Asp842Val Drug: Imatinib https://civicdb.org/links/variants/99 Biomarker: PDGFRA D842V Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Imatinib Disease: gastrointestinal stromal tumor Evidence level: D - Preclinical Trust rating: 3/5 Source PMID: 12949711 |
|
BRAF
|
OG
Oncogene
This gene acts (predominantly) as an oncogene, and thus activating alterations are the main drivers. Gene mechanism of action has been determined based on the Cancer Gene Census, the 20/20 rule and manual curation. |
Mutation
missense
p.Val600Glu
exon 15/18
more
chr7:140453136 A/T (GRCh37/hg19)
Transcript: ENST00000288602 HGVSp: ENSP00000288602.6:p.Val600Glu HGVSc: ENST00000288602.6:c.1799T>A Location: exon 15/18 Consequence: missense variant Representative Transcript ──────────────────────── Transcript: ENST00000479537 HGVSp: ENSP00000418033.1:p.Val28Glu HGVSc: ENST00000479537.1:c.83T>A Location: exon 2/6 Consequence: missense variant,NMD transcript variant ──────────────────────── Transcript: ENST00000496384 HGVSp: ENSP00000419060.1:p.Val208Glu HGVSc: ENST00000496384.2:c.623T>A Location: exon 6/10 Consequence: missense variant ──────────────────────── Transcript: ENST00000497784 HGVSp: - HGVSc: ENST00000497784.1:c.*1249T>A Location: exon 16/19 Consequence: 3 prime UTR variant,NMD transcript variant |
Evidence A (curated):
>Pathogenic/Likely pathogenic, ClinVar
BRAF p.Val600Glu https://www.ncbi.nlm.nih.gov/clinvar/variation/13961 Effect: Pathogenic/Likely pathogenic Allele origin: BRAF Review status: criteria provided, multiple submitters, no conflicts >Oncogenic, Biomarker, OncoKB
BRAF p.Val600Glu https://oncokb.org/#/gene/BRAF/alteration/V600E Effect: Oncogenic, Biomarker The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information. >Diagnostic, Poor Outcome, Resistance, Sensitivity/Response, CIViC
BRAF p.Val600Glu https://civicdb.org/links/variants/12 Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Positive Drug: n/a Disease: hairy cell leukemia Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 21663470 https://civicdb.org/links/variants/17 Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Positive Drug: n/a Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 21166657 https://civicdb.org/links/variants/12 Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Positive Drug: n/a Disease: thyroid cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 21594703 https://civicdb.org/links/variants/12 Evidence type: Diagnostic Evidence direction: Supports Variant origin: Somatic Clinical significance: Positive Drug: n/a Disease: thyroid gland papillary carcinoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 24570209 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 32758030 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: FOLFOX-4 Regimen,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 25666295 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 23569304 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26557775 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: lung non-small cell carcinoma Evidence level: A - Guideline Trust rating: 4/5 Source PMID: 27283860 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 25524477 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: skin melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 25399551 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: childhood pilocytic astrocytoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 25524464 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: ovarian serous carcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 26490654 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Panitumumab Disease: colorectal cancer Evidence level: C - Case study Trust rating: 3/5 Source PMID: 20619739 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: cholangiocarcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 28480077 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 22663011 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Bevacizumab,Oxaliplatin,Capecitabine Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19571295 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Irinotecan Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Oxaliplatin Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Cetuximab,Panitumumab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19001320 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Irinotecan,Vemurafenib,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 27729313 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 20818844 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: multiple myeloma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 24997557 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: thyroid gland papillary carcinoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 27460442 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib,Vemurafenib Disease: gastrointestinal neuroendocrine tumor Evidence level: C - Case study Trust rating: 3/5 Source PMID: 27048246 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib,Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 25265494 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: thyroid gland papillary carcinoma Evidence level: C - Case study Trust rating: 4/5 Source PMID: 24987354 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: skin melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 22356324 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: skin melanoma Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 21639808 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: intrahepatic cholangiocarcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 28078132 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: intrahepatic cholangiocarcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 25435907 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 28891408 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: lung non-small cell carcinoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 29320312 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: skin melanoma Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 25399551 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib,Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 25265494 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: lung non-small cell carcinoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26287849 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: langerhans-cell histiocytosis Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26287849 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Vemurafenib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26287849 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 22663011 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 22608338 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: cholangiocarcinoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 26287849 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cetuximab,Encorafenib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 28363909 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Encorafenib,Cetuximab,Alpelisib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 28363909 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 28891408 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 25265492 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib,Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 25037139 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Encorafenib,Binimetinib Disease: melanoma Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 29573941 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib,Vemurafenib Disease: melanoma Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 27480103 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Irinotecan,Vemurafenib,Panitumumab Disease: cholangiocarcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 26687137 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 23020132 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: low grade glioma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 32523649 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: ovarian cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 29320312 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Pertuzumab,Vemurafenib Disease: thyroid gland anaplastic carcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 29320312 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: laryngeal squamous cell carcinoma Evidence level: C - Case study Trust rating: 3/5 Source PMID: 29320312 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: thyroid gland anaplastic carcinoma Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 26287849 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Panitumumab,Trametinib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 29431699 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 25265492 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Panitumumab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 23325582 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 23020132 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Encorafenib,Binimetinib,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 168986 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: biliary tract cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 169315 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: langerhans cell sarcoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 31513482 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cetuximab,Encorafenib,Binimetinib Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 31566309 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: thyroid gland papillary carcinoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 27460442 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Encorafenib,Cetuximab Disease: colorectal cancer Evidence level: A - Guideline Trust rating: 5/5 Source PMID: 31566309 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib,Dabrafenib Disease: thyroid gland anaplastic carcinoma Evidence level: B - Clinical Trust rating: 4/5 Source PMID: 29072975 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 24508103 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Atezolizumab,Vemurafenib,Cobimetinib Disease: melanoma Evidence level: A - Guideline Trust rating: 4/5 Source PMID: 32534646 https://civicdb.org/links/variants/17 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Vemurafenib,Irinotecan,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 147167 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 20619739 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Chemotherapy,Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 20619739 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Oxaliplatin Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Irinotecan Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Bevacizumab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Resistance Drug: Cetuximab Disease: colorectal cancer Evidence level: B - Clinical Trust rating: 3/5 Source PMID: 19603024 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Dabrafenib,Trametinib Disease: melanoma Evidence level: B - Clinical Trust rating: 5/5 Source PMID: 24583796 https://civicdb.org/links/variants/12 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib Disease: cancer Evidence level: D - Preclinical Trust rating: 3/5 Source PMID: 23934108 https://civicdb.org/links/variants/399 Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib Disease: cancer Evidence level: D - Preclinical Trust rating: 4/5 Source PMID: 22169769
Inconclusive curation:
>Population AF<1%, gnomAD/1000G
BRAF p.Val600Glu This variant is observed across population databases with max AF< 1% (3.267e-05), which is the threshold used to assume that the variant should be neutral gnomAD combined population: 3.98e-06 gnomAD African/African American: 0 gnomAD Ashkenazi Jewish: 0 gnomAD East Asian: 0 gnomAD European (Finnish): 0 gnomAD European (non-Finnish): 0 gnomAD South Asian: 0 gnomAD Other: 0 1000G European: - 1000G African: - 1000G American: - 1000G East Asian: - 1000G South Asian: - >Inconclusive/weaker evidence, ClinVar
BRAF p.Val600Glu https://www.ncbi.nlm.nih.gov/clinvar/variation/376069 Effect: Likely pathogenic Allele origin: BRAF Review status: no assertion criteria provided |
Sensitivity/Response (basket match)
This biomarker is reported to be pan-cancer, and thus it is matched regardless of the tumor type of the sample under analysis.
> Cobimetinib (CIViC
BRAF p.Val600Glu Drug: Cobimetinib https://civicdb.org/links/variants/12 Biomarker: BRAF V600E Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Cobimetinib Disease: cancer Evidence level: D - Preclinical Trust rating: 3/5 Source PMID: 23934108 > Trametinib (CIViC
BRAF p.Val600Glu Drug: Trametinib https://civicdb.org/links/variants/399 Biomarker: BRAF Mutation Evidence type: Predictive Evidence direction: Supports Variant origin: Somatic Clinical significance: Sensitivity/Response Drug: Trametinib Disease: cancer Evidence level: D - Preclinical Trust rating: 4/5 Source PMID: 22169769 |
Alterations not classified as functional: 2
| Gene | Gene Info | Alteration | Functional classification | Functional relevance evidence | Biomarker |
|---|---|---|---|---|---|
|
PALB2
|
TS
Tumor Suppressor
This gene acts (predominantly) as a tumor suppressor, and thus loss-of-function (or dominant-negative) alterations are the main drivers. Gene mechanism of action has been determined based on the Cancer Gene Census, the 20/20 rule and manual curation. Secondary Findings
Pathogenic variants of germline origin in This gene are recommended to be reported as secondary findings by the Cancer Core Europe consensus when appropriate. |
Mutation
missense
p.Lys30Asn
exon 2/13
more
chr16:23649409 C/G (GRCh37/hg19)
Transcript: ENST00000261584 HGVSp: ENSP00000261584.4:p.Lys30Asn HGVSc: ENST00000261584.4:c.90G>C Location: exon 2/13 Consequence: missense variant Representative Transcript ──────────────────────── Transcript: ENST00000300087 HGVSp: - HGVSc: - Location: - Consequence: upstream gene variant Representative Transcript ──────────────────────── Transcript: ENST00000561514 HGVSp: ENSP00000460666.1:p.Lys32Asn HGVSc: ENST00000561514.1:c.96G>C Location: exon 2/4 Consequence: missense variant ──────────────────────── Transcript: ENST00000563188 HGVSp: - HGVSc: - Location: - Consequence: upstream gene variant ──────────────────────── Transcript: ENST00000563998 HGVSp: - HGVSc: - Location: - Consequence: upstream gene variant ──────────────────────── Transcript: ENST00000565038 HGVSp: - HGVSc: - Location: - Consequence: upstream gene variant ──────────────────────── Transcript: ENST00000566053 HGVSp: - HGVSc: - Location: - Consequence: upstream gene variant ──────────────────────── Transcript: ENST00000566298 HGVSp: - HGVSc: - Location: - Consequence: upstream gene variant ──────────────────────── Transcript: ENST00000567003 HGVSp: - HGVSc: ENST00000567003.1:c.*140G>C Location: exon 3/5 Consequence: 3 prime UTR variant,NMD transcript variant ──────────────────────── Transcript: ENST00000568219 HGVSp: ENSP00000454703.1:p.Asp25His HGVSc: ENST00000568219.1:c.73G>C Location: exon 2/13 Consequence: missense variant,NMD transcript variant ──────────────────────── Transcript: ENST00000568272 HGVSp: - HGVSc: - Location: - Consequence: upstream gene variant ──────────────────────── Transcript: ENST00000568589 HGVSp: - HGVSc: - Location: - Consequence: upstream gene variant |
Putative neutral |
Evidence A (curated):
>Likely Neutral, OncoKB
PALB2 p.Lys30Asn https://oncokb.org/#/gene/PALB2/alteration/K30N Effect: Likely Neutral The use of a valid OncoKB token is needed to show more OncoKB annotation details here; please see MTBP FAQs for more information.
Inconclusive curation:
>Inconclusive/weaker evidence, ClinVar
PALB2 p.Lys30Asn https://www.ncbi.nlm.nih.gov/clinvar/variation/126779 Effect: Uncertain significance Allele origin: PALB2 Review status: no assertion criteria provided |
Not contemplated
Potential match with cancer biomarkers is only contemplated for variants that are classified as functionally relevant.
|
|
KIT
|
OG
Oncogene
This gene acts (predominantly) as an oncogene, and thus activating alterations are the main drivers. Gene mechanism of action has been determined based on the Cancer Gene Census, the 20/20 rule and manual curation. |
Mutation
missense
p.Val530Ile
exon 10/21
more
chr4:55593431 G/A (GRCh37/hg19)
Transcript: ENST00000288135 HGVSp: ENSP00000288135.5:p.Val530Ile HGVSc: ENST00000288135.5:c.1588G>A Location: exon 10/21 Consequence: missense variant Representative Transcript ──────────────────────── Transcript: ENST00000412167 HGVSp: ENSP00000390987.2:p.Val526Ile HGVSc: ENST00000412167.2:c.1576G>A Location: exon 10/21 Consequence: missense variant ──────────────────────── Transcript: ENST00000512959 HGVSp: - HGVSc: - Location: - Consequence: upstream gene variant |
Unknown significance |
Inconclusive curation:
>Population AF<1%, gnomAD/1000G
KIT p.Val530Ile This variant is observed across population databases with max AF< 1% (0.0015), which is the threshold used to assume that the variant should be neutral gnomAD combined population: 0.0005493 gnomAD African/African American: 0.001107 gnomAD Ashkenazi Jewish: 9.925e-05 gnomAD East Asian: 0 gnomAD European (Finnish): 0 gnomAD European (non-Finnish): 0.0008366 gnomAD South Asian: 0 gnomAD Other: 0.0006532 1000G European: 0.001 1000G African: 0 1000G American: 0.0015 1000G East Asian: 0 1000G South Asian: 0 >Inconclusive/weaker evidence, ClinVar
KIT p.Val530Ile https://www.ncbi.nlm.nih.gov/clinvar/variation/134621 Effect: Conflicting classifications of pathogenicity Allele origin: KIT Review status: criteria provided, conflicting classifications >No conclusive criteria, more
KIT p.Val530Ile No conclusive effect for this variant is reported by the knowledgebases employed here. No biological bona fide assumption or bioinformatic prediction (see PMID: 35221333) applies and/or is conclusive to classify the variant. |
Not contemplated
Potential match with cancer biomarkers is only contemplated for variants that are classified as functionally relevant.
|
Proteomics lung cancer subtype: 3
Select reference set(s) for outlier analysis:
Relative protein-set abundance
BRAF
HIGH
-4
-3
-2
-1
0
1