Annotation Detail
Information
- Associated Genes
- BARD1
- Associated Variants
-
BARD1 p.Ser354Ter (p.S354*)
(
ENST00000260947.9,
ENST00000421162.2,
ENST00000613374.5,
ENST00000613706.5,
ENST00000617164.5,
ENST00000619009.5,
ENST00000620057.4 )
BARD1 p.Ser354Ter (p.S354*) ( 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.1061C>G (p.Ser354Ter) AND Familial cancer of breast
- ClinVar Allele ID
- 181817
- ClinVar RefSeq Alternation Syntax
- NR_104215.2:n.969C>G
- ClinVar RefSeq Alternation Syntax
- NM_001282549.2:c.364+11484C>G
- ClinVar RefSeq Alternation Syntax
- NM_000465.4:c.1061C>G
- ClinVar RefSeq Alternation Syntax
- NM_001282545.2:c.215+16248C>G
- ClinVar RefSeq Alternation Syntax
- NR_104212.2:n.1026C>G
- ClinVar RefSeq Alternation Syntax
- NM_001282548.2:c.159-28258C>G
- ClinVar RefSeq Alternation Syntax
- NM_001282543.2:c.1004C>G
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2023-07-06
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000810857
- ClinVar Disease
- Familial cancer of breast
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs