Q11H (p.Gln11His) variant of BARD1 (Q99728)
Q11H (p.Gln11His) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Breast and/or ovarian cancer; Hereditary cancer-predisposing syndrome; not speci. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
Q11H (p.Gln11His) variant details
- p.Gln11His
- rs143914387
- ClinGen CA287543
- ClinVar RCV000115633
- ClinVar RCV000195673
- Conflicting interpretations
- Breast and/or ovarian cancer; Hereditary cancer-predisposing syndrome; not speci
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.16
- CADD 15.40
- PolyPhen-2 0.20
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (Breast and/or ovarian cancer; Hereditary cancer-predisposing syn)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:DRUZE population (allele frequency 0.014)
- 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)