Annotation Detail

Information
Associated Genes
BRCA2
Associated Variants
BRCA2 p.Tyr3308= (p.Y3308=) ( ENST00000544455.6, ENST00000380152.8, ENST00000530893.7, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Tyr3308= (p.Y3308=) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
Associated Disease
Breast and/or ovarian cancer
Source Database
ClinVar
Description
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=) AND Breast and/or ovarian cancer
ClinVar Allele ID
67585
ClinVar RefSeq Alternation Syntax
NM_000059.4:c.9924C>T
Clinical Significance Description
Likely benign
Clinical Significance Last Update
2022-08-08
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV003492373
ClinVar Disease
Breast and/or ovarian cancer
Observed Origin Sample
germline
Drugs