Variants
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rs976825540

  • Uncertain significance

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Description

This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 86 of the NHEJ1 protein (p.Asp86Asn). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 656383). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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

219157606


Variant Type

SNP

Genes

ClinVar

Name

NM_024782.3(NHEJ1):c.256G>A (p.Asp86Asn)


Allele

T


Clinical Significance

Uncertain significance

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