Annotation Detail
Information
- Associated Genes
- BARD1
- Associated Variants
-
BARD1 p.Val507Leu (p.V507L)
(
ENST00000260947.9,
ENST00000421162.2,
ENST00000613374.5,
ENST00000613706.5,
ENST00000617164.5,
ENST00000619009.5,
ENST00000620057.4 )
BARD1 p.Val507Leu (p.V507L) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 ) - Associated Disease
- Familial cancer of breast
- Source Database
- ClinVar
- Description
- NM_000465.4(BARD1):c.1518_1519delinsCT (p.Val507Leu) AND Familial cancer of breast
- ClinVar Allele ID
- 405575
- ClinVar RefSeq Alternation Syntax
- NR_104212.2:n.1483_1484delinsCT
- ClinVar RefSeq Alternation Syntax
- NM_000465.4:c.1518_1519delinsCT
- ClinVar RefSeq Alternation Syntax
- NM_001282549.2:c.364+24765_364+24766delinsCT
- ClinVar RefSeq Alternation Syntax
- NM_001282545.2:c.216-14977_216-14976delinsCT
- ClinVar RefSeq Alternation Syntax
- NM_001282543.2:c.1461_1462delinsCT
- ClinVar RefSeq Alternation Syntax
- NM_001282548.2:c.159-14977_159-14976delinsCT
- ClinVar RefSeq Alternation Syntax
- NR_104216.2:n.682_683delinsCT
- ClinVar RefSeq Alternation Syntax
- NR_104215.2:n.1426_1427delinsCT
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-08-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000796806
- ClinVar Disease
- Familial cancer of breast
- Observed Origin Sample
- germline
Drugs