Annotation Detail

Information
Associated Genes
BRCA2
Associated Variants
BRCA2 p.Val159Met (p.V159M) ( ENST00000544455.6, ENST00000380152.8, ENST00000530893.7, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Val159Met (p.V159M) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
Associated Disease
Carcinoma of pancreas
Source Database
ClinVar
Description
NM_000059.4(BRCA2):c.475G>A (p.Val159Met) AND Carcinoma of pancreas
ClinVar Allele ID
66379
ClinVar RefSeq Alternation Syntax
NM_000059.4:c.475G>A
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2021-03-04
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001391212
ClinVar Disease
Carcinoma of pancreas
Observed Origin Sample
germline
Drugs