ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively widespread explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the result of sequence changes on RNA splicing recommend that this variant might generate or bolster a splice web-site. In summary, the available proof is now inadequate to find out the position of this variant in illness. Therefore, it's been labeled like a Variant of Uncertain Importance.
This sequence alter has an effect on codon 777 on the GAA mRNA. It is a 'silent' transform, meaning that it doesn't alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon sixteen, that's Portion of the consensus splice web page for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported while in the literature in individuals impacted with GAA-linked conditions.
This date represents the last time this VCV report was current. The update could be due to an update to one of many involved submitted documents (SCVs), or due to an update that ClinVar produced on the variant for instance introducing HGVS expressions or simply a rs quantity.
The worldwide minimal allele frequency calculated because of the one thousand Genomes Undertaking. The minor allele at this location is indicated in parentheses and could be diverse from your allele represented by this VCV history.
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Browse our regulations for calculating the evaluate position. This column also includes a hyperlink to the submitter’s assertion conditions if furnished, and the collection technique.
The submitting Group for this submitted (SCV) file. This column also contains the SCV accession and Variation range, the date this SCV 1st appeared in ClinVar, and also the day this SCV was final current in ClinVar.
These citations are identified by LitVar using the rs selection, so they may involve citations for more than one variant at this spot. Please overview the LitVar success very carefully for your personal variant of interest. File past updated Could 19, 2024
Aberrant five' splice web pages in human sickness genes: mutation sample, nucleotide framework and comparison of computational equipment that predict their utilization.
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