D3E (p.Asp3Glu) variant of BARD1 (Q99728)
D3E (p.Asp3Glu) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes published literature and structural context.
D3E (p.Asp3Glu) variant details
- p.Asp3Glu
- rs1574870148
- ClinGen CA350465498
- ClinVar RCV003500958
- Ensembl rs1574870148
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- 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)