Annotation Detail
Information
- Associated Genes
- BRCA2
- Associated Variants
-
BRCA2 c.7977-1G>T
(
ENST00000530893.7,
ENST00000544455.6,
ENST00000700202.2,
ENST00000380152.8,
ENST00000713678.1,
ENST00000713680.1 )
BRCA2 c.7977-1G>T ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 ) - Associated Disease
- hereditary breast ovarian cancer syndrome
- Source Database
- ClinVar
- Description
- NM_000059.4(BRCA2):c.7977-1G>T AND Hereditary breast ovarian cancer syndrome
- ClinVar Allele ID
- 131701
- ClinVar RefSeq Alternation Syntax
- NM_000059.4:c.7977-1G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406721.1:c.3045-1G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406720.1:c.7977-1G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406719.1:c.7881-1G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406722.1:c.1560-1G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-01-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000197791
- ClinVar Disease
- Hereditary breast ovarian cancer syndrome
- Observed Origin Sample
- germline
Drugs