A35T (p.Ala35Thr) variant of BARD1 (Q99728)
A35T (p.Ala35Thr) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Hereditary cancer-predisposing syndrome; Familial cancer of breas. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A35T (p.Ala35Thr) variant details
- p.Ala35Thr
- rs587782865
- ClinGen CA169934
- ClinVar RCV000132488
- ClinVar RCV001849947
- Uncertain significance
- not specified; Hereditary cancer-predisposing syndrome; Familial cancer of breas
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.19
- CADD 22.20
- PolyPhen-2 0.04
- SIFT 0.21
- ClinVar: Uncertain significance (not specified; Hereditary cancer-predisposing syndrome; Familial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)