Annotation Detail
Information
- Associated Genes
- BRCA2
- Associated Variants
-
BRCA2 c.631+1G>C
(
ENST00000700202.2,
ENST00000713680.1,
ENST00000713678.1,
ENST00000530893.7,
ENST00000380152.8,
ENST00000544455.6 )
BRCA2 c.631+1G>C ( 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.631+1G>C AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 408840
- ClinVar RefSeq Alternation Syntax
- NM_001406721.1:c.631+1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406719.1:c.631+1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406720.1:c.631+1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406722.1:c.262+1G>C
- ClinVar RefSeq Alternation Syntax
- NM_000059.4:c.631+1G>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-12-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003168968
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs