Annotation Detail
Information
- Associated Genes
- BARD1
- Associated Variants
-
BARD1 p.Arg112Ter (p.R112*)
(
ENST00000260947.9,
ENST00000421162.2,
ENST00000613374.5,
ENST00000613706.5,
ENST00000617164.5,
ENST00000619009.5,
ENST00000620057.4 )
BARD1 p.Arg112Ter (p.R112*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 ) - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_000465.4(BARD1):c.334C>T (p.Arg112Ter) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 181842
- ClinVar RefSeq Alternation Syntax
- NM_000465.4:c.334C>T
- ClinVar RefSeq Alternation Syntax
- NM_001282548.2:c.158+17085C>T
- ClinVar RefSeq Alternation Syntax
- NM_001282543.2:c.277C>T
- ClinVar RefSeq Alternation Syntax
- NM_001282545.2:c.215+4734C>T
- ClinVar RefSeq Alternation Syntax
- NR_104216.2:n.448C>T
- ClinVar RefSeq Alternation Syntax
- NM_001282549.2:c.334C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-08-03
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000164507
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs