Annotation Detail
Information
- Associated Genes
- BARD1
- Associated Variants
-
BARD1 p.Ser551Ter (p.S551*)
(
ENST00000260947.9,
ENST00000421162.2,
ENST00000613374.5,
ENST00000613706.5,
ENST00000617164.5,
ENST00000619009.5,
ENST00000620057.4 )
BARD1 p.Ser551Ter (p.S551*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 ) - Associated Disease
- Familial cancer of breast
- Source Database
- ClinVar
- Description
- NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter) AND Familial cancer of breast
- ClinVar Allele ID
- 151098
- ClinVar RefSeq Alternation Syntax
- NM_001282548.2:c.242C>G
- ClinVar RefSeq Alternation Syntax
- NM_001282543.2:c.1595C>G
- ClinVar RefSeq Alternation Syntax
- NM_001282545.2:c.299C>G
- ClinVar RefSeq Alternation Syntax
- NR_104212.2:n.1617C>G
- ClinVar RefSeq Alternation Syntax
- NR_104216.2:n.816C>G
- ClinVar RefSeq Alternation Syntax
- NM_001282549.2:c.365-21964C>G
- ClinVar RefSeq Alternation Syntax
- NM_000465.4:c.1652C>G
- ClinVar RefSeq Alternation Syntax
- NR_104215.2:n.1560C>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-13
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000206283
- ClinVar Disease
- Familial cancer of breast
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs