Annotation Detail
Information
- Associated Genes
- BARD1
- Associated Variants
-
BARD1 p.Leu316Ter (p.L316*)
(
ENST00000260947.9,
ENST00000421162.2,
ENST00000613374.5,
ENST00000613706.5,
ENST00000617164.5,
ENST00000619009.5,
ENST00000620057.4 )
BARD1 p.Leu316Ter (p.L316*) ( 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.947T>G (p.Leu316Ter) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 151126
- ClinVar RefSeq Alternation Syntax
- NM_001282548.2:c.159-28372T>G
- ClinVar RefSeq Alternation Syntax
- NM_001282545.2:c.215+16134T>G
- ClinVar RefSeq Alternation Syntax
- NM_001282549.2:c.364+11370T>G
- ClinVar RefSeq Alternation Syntax
- NR_104215.2:n.855T>G
- ClinVar RefSeq Alternation Syntax
- NR_104212.2:n.912T>G
- ClinVar RefSeq Alternation Syntax
- NM_001282543.2:c.890T>G
- ClinVar RefSeq Alternation Syntax
- NM_000465.4:c.947T>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2014-04-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000129918
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs