R21C (p.Arg21Cys) variant of BARD1 (Q99728)
R21C (p.Arg21Cys) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Familial cancer of breast; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
R21C (p.Arg21Cys) variant details
- p.Arg21Cys
- rs864622206
- ClinGen CA10577868
- cosmic curated COSV53615
- ClinVar RCV000222789
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial cancer of breast; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0939
- REVEL 0.10
- CADD 4.18
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial cancer of brea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)