R31C (p.Arg31Cys) variant of BARD1 (Q99728)
R31C (p.Arg31Cys) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Familial cancer of breast; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R31C (p.Arg31Cys) variant details
- p.Arg31Cys
- rs1064795053
- ClinGen CA16617460
- cosmic curated COSV53608
- ClinVar RCV000480635
- Uncertain significance
- not provided; Familial cancer of breast; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.21
- CADD 9.90
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (not provided; Familial cancer of breast; Hereditary cancer-predi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.1e-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)