I33M (p.Ile33Met) variant of NBN (Nibrin)
I33M (p.Ile33Met) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Microcephaly, normal intelligence and immunodeficiency; Hereditary cancer-predis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
I33M (p.Ile33Met) variant details
- p.Ile33Met
- rs1172365532
- ClinGen CA371663283
- ClinVar RCV001035513
- ClinVar RCV003160205
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency; Hereditary cancer-predis
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.65
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Microcephaly, normal intelligence and immunodeficiency; Heredita)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Nijmegen Breakage Syndrome. (PMID 20301355)