Comment: This sequence alter affects codon 777 with the GAA mRNA. This is a 'silent' alter, meaning that it doesn't change the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon 16, which is Component 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 documented in the literature in people influenced with GAA-associated conditions.
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ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively widespread cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the outcome of sequence improvements on RNA splicing recommend this variant could build or strengthen a splice website. In summary, the out there proof is at present inadequate to determine the part of this variant in condition. As a result, it's been categorised as being a Variant of Unsure Significance. Okay
Stars signify the combination overview position, or the level of assessment supporting the combination germline classification for this VCV history.
The worldwide minor allele frequency calculated with the a thousand Genomes Venture. The minimal allele at this spot is indicated in parentheses and will be diverse within the allele represented by this VCV document.
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This day represents the final time this VCV history was up to date. The update can be due to an update to one of several included submitted information (SCVs), or resulting from an update that ClinVar made for the variant for instance introducing HGVS expressions or a rs amount.
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This price is calculated by NCBI according to facts from submitters. Study our procedures for calculating the overview position. The volume of submissions which add to this critique status is revealed in parentheses.