D29V (p.Asp29Val) variant of BARD1 (Q99728)
D29V (p.Asp29Val) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial cancer of breast; Hereditary cancer-predisposing syndrome; not provided. The record also includes published literature and structural context.
D29V (p.Asp29Val) variant details
- p.Asp29Val
- rs777491507
- ClinGen CA10577864
- ClinVar RCV000217089
- ClinVar RCV000560249
- Conflicting interpretations
- Familial cancer of breast; Hereditary cancer-predisposing syndrome; not provided
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Familial cancer of breast; Hereditary cancer-predisposing syndro)
- 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)