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