I10V (p.Ile10Val) variant of BRIP1 (Fanconi anemia group J protein)
I10V (p.Ile10Val) 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; Familial ovar. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
I10V (p.Ile10Val) variant details
- p.Ile10Val
- rs945685514
- ClinGen CA292281860
- ClinVar RCV001016908
- ClinVar RCV001209674
- Uncertain significance
- Familial cancer of breast; Fanconi anemia complementation group J; Familial ovar
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.35
- AlphaMissense 0.32
- MetaLR 0.47
- MetaSVM -0.16
- CADD 21.50
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (Familial cancer of breast; Fanconi anemia complementation group)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-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)