Q169H (p.Gln169His) variant of BRIP1 (Fanconi anemia group J protein)
Q169H (p.Gln169His) in BRIP1 (Fanconi anemia group J protein) 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; Fanconi anemia complementation group J; Hereditary ca. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
Q169H (p.Gln169His) variant details
- p.Gln169His
- rs876660937
- ClinGen CA400484346
- ClinVar RCV002335884
- ClinVar RCV003454162
- Pathogenic/Likely pathogenic
- Familial cancer of breast; Fanconi anemia complementation group J; Hereditary ca
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.26
- CADD 35.00
- ClinVar: Pathogenic/Likely pathogenic (Familial cancer of breast; Fanconi anemia complementation group)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)