A25V (p.Ala25Val) variant of BARD1 (Q99728)
A25V (p.Ala25Val) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial cancer of breast; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- rs764023867
- ClinGen CA2090525
- ClinVar RCV001207927
- ClinVar RCV005520451
- Uncertain significance
- Familial cancer of breast; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.20
- CADD 15.30
- PolyPhen-2 0.06
- SIFT 0.13
- ClinVar: Uncertain significance (Familial cancer of breast; Hereditary cancer-predisposing syndro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-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)