C31S (p.Cys31Ser) variant of NBN (Nibrin)
C31S (p.Cys31Ser) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Microcephaly, normal intelligence and i. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
C31S (p.Cys31Ser) variant details
- p.Cys31Ser
- rs1377520302
- ClinGen CA371663332
- ClinVar RCV000798750
- ClinVar RCV004027966
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Microcephaly, normal intelligence and i
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.31
- AlphaMissense 0.32
- MetaLR 0.16
- MetaSVM -0.88
- CADD 25.30
- PolyPhen-2 0.89
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Microcephaly, normal in)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)