D29E (p.Asp29Glu) variant of BARD1 (Q99728)
D29E (p.Asp29Glu) 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.
D29E (p.Asp29Glu) variant details
- p.Asp29Glu
- rs1559454445
- ClinGen CA350465100
- ClinVar RCV000774819
- Ensembl rs1559454445
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)