D3N (p.Asp3Asn) variant of BARD1 (Q99728)
D3N (p.Asp3Asn) 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; not specified; Familial cancer of breas. The record also includes published literature and structural context.
D3N (p.Asp3Asn) variant details
- p.Asp3Asn
- rs1060501282
- ClinGen CA350465510
- ClinVar RCV000505858
- ClinVar RCV000776717
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not specified; Familial cancer of breas
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not specified; Familial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)