G9S (p.Gly9Ser) variant of NBN (Nibrin)
G9S (p.Gly9Ser) 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 0.32 / 1. The record also includes published literature and structural context.
G9S (p.Gly9Ser) variant details
- p.Gly9Ser
- rs2129938127
- ClinGen CA371664161
- ClinVar RCV001899681
- ClinVar RCV003164209
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Aplastic anemia; Microcephaly, normal i
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- AlphaMissense 0.17
- MetaLR 0.07
- MetaSVM -1.09
- PolyPhen-2 0.01
- SIFT 0.31
- MutPred 0.29
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Aplastic anemia; Microc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)