R28K (p.Arg28Lys) variant of NBN (Nibrin)
R28K (p.Arg28Lys) 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; Aplastic anemia; Microcephaly, normal i. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R28K (p.Arg28Lys) variant details
- p.Arg28Lys
- rs876658581
- ClinGen CA10578816
- ClinVar RCV000218413
- ClinVar RCV000694610
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Aplastic anemia; Microcephaly, normal i
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.76
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Aplastic anemia; Microc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)