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rs747377284

  • Conflicting interpretations of pathogenicity

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Description

Variant classified as Uncertain Significance - Favor Benign. The p.Ala44Gly vari ant in SOX10 has not been previously reported in individuals with hearing loss o r Waardenburg syndrome. This variant has been identified in 0.2% (9/5424) of Eas t Asian chromosomes by the Exome Aggregation Consortium (http://exac.broadinstit ute.org; dbSNP rs747377284). Computational prediction tools and conservation ana lysis suggest that the p.Ala44Gly variant may not impact the protein, though thi s information is not predictive enough to rule out pathogenicity. In summary, wh ile the clinical significance of the p.Ala44Gly variant in SOX10 is uncertain, t hese data suggest that it is more likely to be benign.

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

This variant is associated with the following publications: (PMID: 30914325)

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

Reference Allele

G


Alternative Allele

A

C

T

Chromosome

22


Location

37983654


Variant Type

SNP

Genes

ClinVar

Name

NM_006941.4(SOX10):c.131C>G (p.Ala44Gly)


Allele

C


Clinical Significance

Conflicting interpretations of pathogenicity

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