R15L (p.Arg15Leu) variant of BARD1 (Q99728)
R15L (p.Arg15Leu) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R15L (p.Arg15Leu) variant details
- p.Arg15Leu
- rs545107676
- ClinGen CA2090533
- ClinVar RCV000553541
- ClinVar RCV000564637
- Likely benign
- not provided; Familial cancer of breast; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.30
- CADD 22.50
- PolyPhen-2 0.15
- SIFT 0.01
- ClinVar: Likely benign (not provided; Familial cancer of breast; Hereditary cancer-predi)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- 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)