Variants
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rs776874142

  • Pathogenic/Likely pathogenic

Your Genotype

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Description

ACMG score likely pathogenic

This sequence change creates a premature translational stop signal (p.Trp261*) in the CASQ2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CASQ2 are known to be pathogenic (PMID: 12386154). This variant is present in population databases (rs776874142, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with CASQ2-related conditions. ClinVar contains an entry for this variant (Variation ID: 427947). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

Reference Allele

C


Alternative Allele

T

Chromosome

1


Location

115725508


Variant Type

SNP

Genes

ClinVar

Name

NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter)


Allele

T


Clinical Significance

Pathogenic/Likely pathogenic

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