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
- Breast-ovarian cancer, familial, susceptibility to, 1
- Source Database
- ClinVar
- Description
- NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) AND Breast-ovarian cancer, familial, susceptibility to, 1
- ClinVar Allele ID
- 24361
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-04-02
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000210161
- ClinVar Disease
- Breast-ovarian cancer, familial, susceptibility to, 1
- Observed Origin Sample
- germline
Drugs