H45Y (p.His45Tyr) variant of NBN (Nibrin)
H45Y (p.His45Tyr) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
H45Y (p.His45Tyr) variant details
- p.His45Tyr
- rs773865323
- ClinGen CA4803052
- ClinVar RCV002259247
- ClinVar RCV003101425
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Microcephaly, normal intelligence and i
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.91
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Microcephaly, normal in)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-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)