Annotation Detail
Information
- Associated Genes
- BARD1
- Associated Variants
-
BARD1 p.Val422MetfsTer53 (p.V422Mfs*53)
(
ENST00000260947.9,
ENST00000421162.2,
ENST00000613374.5,
ENST00000613706.5,
ENST00000617164.5,
ENST00000619009.5,
ENST00000620057.4 )
BARD1 p.Val422MetfsTer53 (p.V422Mfs*53) ( 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.1264_1267delinsATG (p.Val422fs) AND not provided
- ClinVar Allele ID
- 181801
- ClinVar RefSeq Alternation Syntax
- NM_001282548.2:c.159-28055_159-28052delinsATG
- ClinVar RefSeq Alternation Syntax
- NM_001282549.2:c.364+11687_364+11690delinsATG
- ClinVar RefSeq Alternation Syntax
- NM_000465.4:c.1264_1267delinsATG
- ClinVar RefSeq Alternation Syntax
- NR_104212.2:n.1229_1232delinsATG
- ClinVar RefSeq Alternation Syntax
- NR_104215.2:n.1172_1175delinsATG
- ClinVar RefSeq Alternation Syntax
- NM_001282543.2:c.1207_1210delinsATG
- ClinVar RefSeq Alternation Syntax
- NM_001282545.2:c.215+16451_215+16454delinsATG
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-07-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003105805
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs