R10W (p.Arg10Trp) variant of BARD1 (Q99728)
R10W (p.Arg10Trp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R10W (p.Arg10Trp) variant details
- p.Arg10Trp
- rs1425810692
- ClinGen CA350465395
- ClinVar RCV000693386
- gnomAD rs1425810692
- Uncertain significance
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.34
- CADD 25.40
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (Familial cancer of breast)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.7e-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)