A33G (p.Ala33Gly) variant of BARD1 (Q99728)
A33G (p.Ala33Gly) 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 provided; Familial cancer of breast. The record also includes published literature and structural context.
A33G (p.Ala33Gly) variant details
- p.Ala33Gly
- rs1559454402
- ClinGen CA350465042
- ClinVar RCV000774375
- ClinVar RCV002466579
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Familial cancer of breast
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Familial)
- 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)