Annotation Detail

Information
Associated Genes
BRAF
Associated Variants
BRAF p.Val640Glu (p.V640E) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Val640Glu (p.V640E) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
Associated Disease
ganglioglioma
Source Database
CIViC Evidence
Description
In a case report, a cervicomedullary ganglioglioma patient harboring BRAF V600E mutation was associated with radiological and clinical response to vemurafenib monotherapy after 3 months of treatment, which was sustained after 6 months of therapy. Prior to vemurafenib treatment, the patient had undergone tracheotomy, was treated with standard chemotherapy and underwent another surgery, but had developed progressive disease.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/3777
Gene URL
https://civic.genome.wustl.edu/links/genes/5
Variant URL
https://civic.genome.wustl.edu/links/variants/12
Evidence Type
Predictive
Disease
Ganglioglioma
Evidence Direction
Supports
Drug
Vemurafenib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
25524464
Drugs
Drug NameSensitivitySupported
VemurafenibSensitivitytrue