Annotation Detail

Information
Associated Genes
BRAF
Associated Variants
BRAF p.Val640Asp (p.V640D) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Val640Asp (p.V640D) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
Associated Disease
melanoma
Source Database
CIViC Evidence
Description
In an in vitro study, WM2664, a BRAF V600D expressing cell line, demonstrated improved sensitivity to vemurafenib treatment, compared to BRAF wild-type expressing cells. Sensitivity was determined by assessing cell proliferation (WM2664, GI50: 1.5uM; vs. BRAF expressing cells (n=9) GI50: 10-41uM).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/4488
Gene URL
https://civic.genome.wustl.edu/links/genes/5
Variant URL
https://civic.genome.wustl.edu/links/variants/11
Evidence Type
Predictive
Disease
Melanoma
Evidence Direction
Supports
Drug
Vemurafenib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
18287029
Drugs
Drug NameSensitivitySupported
VemurafenibSensitivitytrue