Annotation Detail
Information
- Associated Genes
- BRCA2
- Associated Variants
-
BRCA2 p.Gln1037Ter (p.Q1037*)
(
ENST00000700202.2,
ENST00000713680.1,
ENST00000713678.1,
ENST00000530893.7,
ENST00000380152.8,
ENST00000544455.6 )
BRCA2 p.Gln1037Ter (p.Q1037*) ( 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.3109C>T (p.Gln1037Ter) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 46375
- ClinVar RefSeq Alternation Syntax
- NM_000059.4:c.3109C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-07-19
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000216711
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs