C71Y (p.Cys71Tyr) variant of BARD1 (Q99728)
C71Y (p.Cys71Tyr) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
C71Y (p.Cys71Tyr) variant details
- p.Cys71Tyr
- rs1064793959
- ClinGen CA350462134
- ClinVar RCV001257155
- gnomAD rs1064793959
- Pathogenic/Likely pathogenic
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.93
- CADD 25.30
- PolyPhen-2 0.83
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Familial cancer of breast)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)