Annotation Detail
Information
- Associated Genes
- BRCA2
- Associated Variants
-
BRCA2 p.Asp2723His (p.D2723H)
(
ENST00000544455.6,
ENST00000380152.8,
ENST00000530893.7,
ENST00000700202.2,
ENST00000713680.1,
ENST00000713678.1 )
BRCA2 p.Asp2723His (p.D2723H) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 ) - Associated Disease
- BRCA2-related disorder
- Source Database
- ClinVar
- Description
- NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His) AND BRCA2-related disorder
- ClinVar Allele ID
- 67183
- ClinVar RefSeq Alternation Syntax
- NM_000059.4:c.8167G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-10-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004537207
- ClinVar Disease
- BRCA2-related disorder
- Observed Origin Sample
- germline
Drugs