Annotation Detail
Information
- Associated Genes
- BARD1
- Associated Variants
-
BARD1 p.Ile717GlnfsTer12 (p.I717Qfs*12)
(
ENST00000260947.9,
ENST00000421162.2,
ENST00000613374.5,
ENST00000613706.5,
ENST00000617164.5,
ENST00000619009.5,
ENST00000620057.4 )
BARD1 p.Ile717GlnfsTer12 (p.I717Qfs*12) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000465.4(BARD1):c.2148_2149del (p.Ile717fs) AND not provided
- ClinVar Allele ID
- 181759
- ClinVar RefSeq Alternation Syntax
- NR_104212.2:n.2113_2114del
- ClinVar RefSeq Alternation Syntax
- NM_001282549.2:c.609_610del
- ClinVar RefSeq Alternation Syntax
- NR_104216.2:n.1312_1313del
- ClinVar RefSeq Alternation Syntax
- NM_001282543.2:c.2091_2092del
- ClinVar RefSeq Alternation Syntax
- NR_104215.2:n.2056_2057del
- ClinVar RefSeq Alternation Syntax
- NM_001282548.2:c.738_739del
- ClinVar RefSeq Alternation Syntax
- NM_000465.4:c.2148_2149del
- ClinVar RefSeq Alternation Syntax
- NM_001282545.2:c.795_796del
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-03-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001354340
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs