C42G (p.Cys42Gly) variant of BRIP1 (Fanconi anemia group J protein)
C42G (p.Cys42Gly) 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 Familial cancer of breast; Fanconi anemia complementation group J. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
C42G (p.Cys42Gly) variant details
- p.Cys42Gly
- rs1567877037
- ClinGen CA400485820
- ClinVar RCV001308934
- Ensembl rs1567877037
- Uncertain significance
- Familial cancer of breast; Fanconi anemia complementation group J
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- AlphaMissense 0.99
- MetaLR 0.62
- MetaSVM 0.28
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Uncertain significance (Familial cancer of breast; Fanconi anemia complementation group)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)