A33V (p.Ala33Val) variant of BARD1 (Q99728)
A33V (p.Ala33Val) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Familial cancer of breast; not specifie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A33V (p.Ala33Val) variant details
- p.Ala33Val
- rs1559454402
- ClinGen CA350465041
- ClinVar RCV000802933
- ClinVar RCV002386435
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Familial cancer of breast; not specifie
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.12
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Familial cancer of brea)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)