Annotation Detail
Information
- Associated Genes
- BRCA2
- Associated Variants
-
BRCA2 p.Ser1982ArgfsTer22 (p.S1982Rfs*22)
(
ENST00000700202.2,
ENST00000713678.1,
ENST00000713680.1,
ENST00000530893.7,
ENST00000544455.6,
ENST00000380152.8 )
BRCA2 p.Ser1982ArgfsTer22 (p.S1982Rfs*22) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 ) - Associated Disease
- Breast-ovarian cancer, familial, susceptibility to, 2
- Source Database
- ClinVar
- Description
- NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) AND Breast-ovarian cancer, familial, susceptibility to, 2
- ClinVar Allele ID
- 24364
- ClinVar RefSeq Alternation Syntax
- NM_000059.4:c.5946del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-10-10
- Clinical Significance Review Status
- reviewed by expert panel
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000009910
- ClinVar Disease
- Breast-ovarian cancer, familial, susceptibility to, 2
- Observed Origin Sample
- germline
- Observed Origin Sample
- not applicable
- Observed Origin Sample
- not provided
- Observed Origin Sample
- unknown
- Pubmed
- 8075631
- Pubmed
- 8524414
Drugs