G30C (p.Gly30Cys) variant of BARD1 (Q99728)
G30C (p.Gly30Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G30C (p.Gly30Cys) variant details
- p.Gly30Cys
- rs1696463008
- ClinGen CA350465092
- ClinVar RCV001231098
- ClinVar RCV003166408
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.20
- CADD 23.00
- PolyPhen-2 0.75
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial cancer of brea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)