Variants
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rs140362488

  • Uncertain significance

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Description

This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 81 of the NHEJ1 protein (p.Arg81His). This variant is present in population databases (rs140362488, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with NHEJ1-related conditions. ClinVar contains an entry for this variant (Variation ID: 968285). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

Reference Allele

C


Alternative Allele

T

Chromosome

2


Location

219157620


Variant Type

SNP

Genes

ClinVar

Name

NM_024782.3(NHEJ1):c.242G>A (p.Arg81His)


Allele

T


Clinical Significance

Uncertain significance

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