Annotation Detail

Information
Associated Genes
BRCA2
Associated Variants
BRCA2 p.Ala938ProfsTer21 (p.A938Pfs*21) ( ENST00000544455.6, ENST00000530893.7, ENST00000380152.8, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ala938ProfsTer21 (p.A938Pfs*21) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
Associated Disease
Gastric cancer
Source Database
ClinVar
Description
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) AND Gastric cancer
ClinVar Allele ID
24361
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2021-07-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV003162225
ClinVar Disease
Gastric cancer
Observed Origin Sample
germline
Drugs