A33P (p.Ala33Pro) variant of BARD1 (Q99728)
A33P (p.Ala33Pro) 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 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A33P (p.Ala33Pro) variant details
- p.Ala33Pro
- rs587782465
- ClinGen CA168351
- ClinVar RCV000131555
- ClinVar RCV000235721
- Conflicting interpretations
- BARD1-related cancer predisposition; Hereditary cancer-predisposing syndrome; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.19
- CADD 15.90
- PolyPhen-2 0.15
- SIFT 0.36
- ClinVar: Conflicting classifications of pathogenicity (BARD1-related cancer predisposition; Hereditary cancer-predispos)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.3e-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)