M28V (p.Met28Val) variant of BRIP1 (Fanconi anemia group J protein)
M28V (p.Met28Val) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
M28V (p.Met28Val) variant details
- p.Met28Val
- rs1330147176
- ClinGen CA400485922
- ClinVar RCV000570506
- ClinVar RCV000801846
- Uncertain significance
- Fanconi anemia complementation group J; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.24
- CADD 23.50
- PolyPhen-2 0.09
- SIFT 0.00
- ClinVar: Uncertain significance (Fanconi anemia complementation group J; Hereditary cancer-predis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)