E7Q (p.Glu7Gln) variant of BRIP1 (Fanconi anemia group J protein)
E7Q (p.Glu7Gln) 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; Hereditary ca. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E7Q (p.Glu7Gln) variant details
- p.Glu7Gln
- rs1246321339
- ClinGen CA400486062
- ClinVar RCV001014003
- ClinVar RCV001860752
- Uncertain significance
- Familial cancer of breast; Fanconi anemia complementation group J; Hereditary ca
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.10
- CADD 25.70
- ClinVar: Uncertain significance (Familial cancer of breast; Fanconi anemia complementation group)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)