I35M (p.Ile35Met) variant of NBN (Nibrin)
I35M (p.Ile35Met) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided; Microcephaly, normal inte. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
I35M (p.Ile35Met) variant details
- p.Ile35Met
- rs78870221
- ClinGen CA4803056
- ClinVar RCV000216738
- ClinVar RCV000533679
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Microcephaly, normal inte
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.63
- CADD 22.60
- PolyPhen-2 0.77
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Microceph)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- 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)