Variants
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rs1647836874

  • Uncertain significance

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Description

This sequence change affects codon 202 of the CASQ2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CASQ2 protein. This variant also falls at the last nucleotide of exon 5 of the CASQ2 coding sequence, which is part of the consensus splice site for this exon. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CASQ2-related conditions. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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

1


Location

115732901


Variant Type

SNP

Genes

ClinVar

Name

NM_001232.4(CASQ2):c.606G>A (p.Gly202=)


Allele

T


Clinical Significance

Uncertain significance

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