R5W (p.Arg5Trp) variant of BARD1 (Q99728)
R5W (p.Arg5Trp) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R5W (p.Arg5Trp) variant details
- p.Arg5Trp
- rs766441081
- ClinGen CA350465476
- ClinVar RCV000539389
- ClinVar RCV000579496
- Uncertain significance
- Familial cancer of breast; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.27
- CADD 18.40
- PolyPhen-2 0.03
- SIFT 0.05
- ClinVar: Uncertain significance (Familial cancer of breast; Hereditary cancer-predisposing syndro)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 3.4e-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)