Annotation Detail
Information
- Associated Genes
- BARD1
- Associated Variants
-
BARD1 p.Cys645Ter (p.C645*)
(
ENST00000260947.9,
ENST00000421162.2,
ENST00000613374.5,
ENST00000613706.5,
ENST00000617164.5,
ENST00000619009.5,
ENST00000620057.4 )
BARD1 p.Cys645Ter (p.C645*) ( 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.1932_1933del (p.Val644_Cys645insTer) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 152213
- ClinVar RefSeq Alternation Syntax
- NM_001282549.2:c.393_394del
- ClinVar RefSeq Alternation Syntax
- NR_104215.2:n.1840_1841del
- ClinVar RefSeq Alternation Syntax
- NM_001282545.2:c.579_580del
- ClinVar RefSeq Alternation Syntax
- NM_001282543.2:c.1875_1876del
- ClinVar RefSeq Alternation Syntax
- NM_001282548.2:c.522_523del
- ClinVar RefSeq Alternation Syntax
- NR_104212.2:n.1897_1898del
- ClinVar RefSeq Alternation Syntax
- NR_104216.2:n.1096_1097del
- ClinVar RefSeq Alternation Syntax
- NM_000465.4:c.1932_1933del
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2022-06-21
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000131644
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs