Variants
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rs199744152

  • Uncertain significance

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Description

This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 687 of the ANKZF1 protein (p.Arg687Cys). This variant is present in population databases (rs199744152, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with ANKZF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1015537). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The cysteine 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

219236323


Variant Type

SNP

Genes

Phenotypes

ClinVar

Name

NM_018089.3(ANKZF1):c.2059C>T (p.Arg687Cys)


Allele

T


Clinical Significance

Uncertain significance

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