Annotation Detail
Information
- Associated Genes
- BRCA2
- Associated Variants
-
BRCA2 p.Val1283LysfsTer2 (p.V1283Kfs*2)
(
ENST00000380152.8,
ENST00000530893.7,
ENST00000544455.6,
ENST00000700202.2,
ENST00000713678.1,
ENST00000713680.1 )
BRCA2 p.Val1283LysfsTer2 (p.V1283Kfs*2) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 ) - Associated Disease
- breast carcinoma
- Source Database
- ClinVar
- Description
- NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) AND Breast carcinoma
- ClinVar Allele ID
- 46415
- ClinVar RefSeq Alternation Syntax
- NM_000059.4:c.3847_3848del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-09-12
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001650852
- ClinVar Disease
- Breast carcinoma
- Observed Origin Sample
- germline
Drugs