Annotation Detail

Information
Associated Genes
BRCA2
Associated Variants
BRCA2 c.9501+3A>T ( ENST00000713680.1, ENST00000713678.1, ENST00000700202.2, ENST00000380152.8, ENST00000544455.6, ENST00000530893.7 )
BRCA2 c.9501+3A>T ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
Associated Disease
Hereditary cancer-predisposing syndrome
Source Database
ClinVar
Description
NM_000059.4(BRCA2):c.9501+3A>T AND Hereditary cancer-predisposing syndrome
ClinVar Allele ID
46798
ClinVar RefSeq Alternation Syntax
NM_000059.4:c.9501+3A>T
Clinical Significance Description
Likely benign
Clinical Significance Last Update
2022-05-10
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000131261
ClinVar Disease
Hereditary cancer-predisposing syndrome
Observed Origin Sample
germline
Drugs