A25P (p.Ala25Pro) variant of BARD1 (Q99728)
A25P (p.Ala25Pro) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of BARD1-related cancer predisposition; Hereditary cancer-predisposing syndrome; no. 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.
A25P (p.Ala25Pro) variant details
- p.Ala25Pro
- rs751646468
- ClinGen CA333878
- ClinVar RCV000164946
- ClinVar RCV000203712
- Conflicting interpretations
- BARD1-related cancer predisposition; Hereditary cancer-predisposing syndrome; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.29
- CADD 13.80
- PolyPhen-2 0.42
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (BARD1-related cancer predisposition; Hereditary cancer-predispos)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00041)
- 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)