C42R (p.Cys42Arg) variant of BRIP1 (Fanconi anemia group J protein)
C42R (p.Cys42Arg) in BRIP1 (Fanconi anemia group J protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi anemia complementation group J; Familial cancer of breast; Hereditary ca. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
C42R (p.Cys42Arg) variant details
- p.Cys42Arg
- rs1567877037
- ClinGen CA400485819
- ClinVar RCV000691506
- ClinVar RCV003163154
- Uncertain significance
- Fanconi anemia complementation group J; Familial cancer of breast; Hereditary ca
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.80
- AlphaMissense 0.99
- MetaLR 0.62
- MetaSVM 0.28
- CADD 27.70
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Fanconi anemia complementation group J; Familial cancer of breas)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)