Y8* (p.Tyr8Ter) variant of BRIP1 (Fanconi anemia group J protein)
Y8* (p.Tyr8Ter) in BRIP1 (Fanconi anemia group J protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
Y8* (p.Tyr8Ter) variant details
- p.Tyr8Ter
- rs752411477
- ClinGen CA400486048
- ClinVar RCV001194695
- ClinVar RCV003163490
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.449
- CADD 34.00
- 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)