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
thyroid gland papillary carcinoma
Source Database
CIViC Evidence
Description
Thyroid nodule with BRAF V600E mutation is highly correlated with papillary thyroid cancer.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/80
Gene URL
https://civic.genome.wustl.edu/links/genes/5
Variant URL
https://civic.genome.wustl.edu/links/variants/12
Rating
5
Evidence Type
Diagnostic
Disease
Thyroid Gland Papillary Carcinoma
Evidence Direction
Supports
Evidence Level
B
Clinical Significance
Positive
Pubmed
24570209
Drugs