D3A (p.Asp3Ala) variant of BARD1 (Q99728)
D3A (p.Asp3Ala) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
D3A (p.Asp3Ala) variant details
- p.Asp3Ala
- rs2106172126
- ClinGen CA350465507
- ClinVar RCV001804454
- Ensembl rs2106172126
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)