Y16C (p.Tyr16Cys) variant of NBN (Nibrin)
Y16C (p.Tyr16Cys) 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; not provided; Microcephaly, normal inte. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
Y16C (p.Tyr16Cys) variant details
- p.Tyr16Cys
- rs864622726
- ClinGen CA371663697
- ClinVar RCV001023075
- ClinVar RCV001800935
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Microcephaly, normal inte
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.06
- AlphaMissense 0.07
- MetaLR 0.07
- MetaSVM -1.07
- CADD 17.00
- PolyPhen-2 0.04
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Microceph)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)