Y8C (p.Tyr8Cys) variant of BRIP1 (Fanconi anemia group J protein)
Y8C (p.Tyr8Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
Y8C (p.Tyr8Cys) variant details
- p.Tyr8Cys
- rs2145865832
- ClinGen CA400486050
- ClinVar RCV003802744
- Uncertain significance
- Fanconi anemia complementation group J; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- AlphaMissense 0.23
- MetaLR 0.15
- MetaSVM -0.95
- PolyPhen-2 0.82
- SIFT 0.07
- EVE 0.59
- ClinVar: Uncertain significance (Fanconi anemia complementation group J; Familial cancer of breas)
- 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)