Annotation Detail
Information
- Associated Genes
- BRCA1
- Associated Variants
-
BRCA1 c.*421G>T
(
ENST00000494123.6,
ENST00000478531.6,
ENST00000477152.6,
ENST00000473961.6,
ENST00000644555.2,
ENST00000468300.5,
ENST00000493919.6,
ENST00000352993.7,
ENST00000357654.9,
ENST00000461574.2,
ENST00000471181.7,
ENST00000497488.2,
ENST00000618469.2,
ENST00000470026.6,
ENST00000713676.1,
ENST00000644379.2,
ENST00000634433.2,
ENST00000489037.2,
ENST00000476777.6 )
BRCA1 c.*421G>T ( ENST00000352993.7, ENST00000357654.9, ENST00000461574.2, ENST00000468300.5, ENST00000470026.6, ENST00000471181.7, ENST00000473961.6, ENST00000476777.6, ENST00000477152.6, ENST00000478531.6, ENST00000489037.2, ENST00000493919.6, ENST00000494123.6, ENST00000497488.2, ENST00000618469.2, ENST00000634433.2, ENST00000644379.2, ENST00000644555.2, ENST00000713676.1 ) - Associated Disease
- Breast-ovarian cancer, familial, susceptibility to, 1
- Source Database
- ClinVar
- Description
- NM_007294.4(BRCA1):c.*421G>T AND Breast-ovarian cancer, familial, susceptibility to, 1
- ClinVar Allele ID
- 206192
- ClinVar RefSeq Alternation Syntax
- NM_007299.4:c.*527G>T
- ClinVar RefSeq Alternation Syntax
- NM_007297.4:c.*421G>T
- ClinVar RefSeq Alternation Syntax
- NM_007300.4:c.*421G>T
- ClinVar RefSeq Alternation Syntax
- NM_007294.4:c.*421G>T
- ClinVar RefSeq Alternation Syntax
- NR_027676.2:n.6190G>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2015-01-12
- Clinical Significance Review Status
- reviewed by expert panel
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000191177
- ClinVar Disease
- Breast-ovarian cancer, familial, susceptibility to, 1
- Observed Origin Sample
- germline
Drugs