Comment: This sequence alter affects codon 777 on the GAA mRNA. It is a 'silent' adjust, which means that it doesn't alter the encoded amino acid sequence with the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is Portion of the consensus splice web site for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been claimed during the literature in folks impacted with GAA-relevant situations.
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ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a comparatively widespread explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to predict the outcome of sequence improvements on RNA splicing propose this variant may possibly produce or fortify a splice internet site. In summary, the accessible evidence is now insufficient to find out the function of the variant in disease. Thus, it has been labeled as a Variant of Uncertain Significance. (significantly less)
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The global slight allele frequency calculated through the a thousand Genomes Project. The slight allele at this locale is indicated in parentheses and may be diverse within the allele represented by this VCV document.
This column consists of additional information supporting the classification, together with citations, the comment on classification, and in depth evidence furnished as observations of the variant through the submitter.
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The volume of variants in ClinVar for this gene, which includes smaller variants within the gene and larger CNVs that overlap or thoroughly include the gene.
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This price is calculated by NCBI according to facts from submitters. Go through our procedures for calculating the assessment position. The number of submissions which lead to this evaluate status is demonstrated in parentheses.