G32C (p.Gly32Cys) variant of BARD1 (Q99728)
G32C (p.Gly32Cys) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G32C (p.Gly32Cys) variant details
- p.Gly32Cys
- rs1224914625
- ClinGen CA350465066
- ClinVar RCV003024460
- TOPMed rs1224914625
- Uncertain significance
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.43
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Familial cancer of breast)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)