ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively frequent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the effect of sequence variations on RNA splicing suggest that this variant might develop or bolster a splice internet site. In summary, the available proof is at this time inadequate to find out the part of this variant in condition. As a result, it has been categorized like a Variant of Uncertain Importance.
This sequence transform affects codon 777 in the GAA mRNA. It is just a 'silent' change, which means that it does not change the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon sixteen, which is Element of the consensus splice web-site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported in the literature in persons affected with GAA-relevant disorders.
This date represents the last time this VCV record was up to date. The update may very well be on account of an update to one of the integrated submitted information (SCVs), or resulting from an update that ClinVar built towards the variant including including HGVS expressions or possibly a rs range.
The worldwide small allele frequency calculated from the 1000 Genomes Challenge. The minimal allele at this spot is indicated in parentheses and will be various from the allele represented by this VCV history.
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There isn't any citations for germline classification of this variant in ClinVar. If you already know of citations for this variation, you should look at distributing that data to ClinVar.
The publishing Business for this submitted (SCV) history. This column also incorporates the SCV accession and version range, the date this SCV initially appeared in ClinVar, as well as the day that this SCV was previous current in ClinVar.
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Aberrant 5' splice websites in human disorder genes: mutation pattern, nucleotide construction and comparison of computational resources that forecast their utilization.
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The quantity of variants in ClinVar for thr777 this gene, which include smaller sized variants throughout the gene and larger CNVs that overlap or thoroughly include the gene.
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Stars stand for the evaluation position, or the level of critique supporting the submitted (SCV) report. This price is calculated by NCBI determined by info from your submitter.