G32V (p.Gly32Val) variant of BARD1 (Q99728)
G32V (p.Gly32Val) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; BARD1-related cancer predisposition; no. 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.
G32V (p.Gly32Val) variant details
- p.Gly32Val
- rs587782675
- ClinGen CA169260
- ClinVar RCV000132101
- ClinVar RCV000542693
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; BARD1-related cancer predisposition; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.38
- CADD 23.10
- PolyPhen-2 0.66
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; BARD1-related cancer pr)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)
- 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)