ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a comparatively typical explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the outcome of sequence adjustments on RNA splicing propose that this variant may possibly make or fortify a splice web page. In summary, the accessible evidence is currently inadequate to ascertain the purpose of this variant in condition. Consequently, it has been categorised for a Variant of Uncertain Importance.
This sequence modify affects codon 777 of your GAA mRNA. It's a 'silent' improve, this means that it does not alter the encoded amino acid sequence with the GAA protein. This variant also falls at the final nucleotide of exon 16, which happens to be Component of the consensus splice internet site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been claimed while in the literature in individuals impacted with GAA-associated problems.
This date signifies the final time this VCV report was updated. The update may be due to an update to one of many included submitted documents (SCVs), or as a consequence of an update that ClinVar created on the variant for instance introducing HGVS expressions or even a rs amount.
The worldwide minimal allele frequency calculated by the a thousand Genomes Job. 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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The aggregate germline classification for this variant, generally for your monogenic or Mendelian ailment as within the ACMG/AMP suggestions, or for response into a drug. This worth is calculated by NCBI based upon details from submitters. Read our guidelines for calculating the aggregate classification.
Browse our policies for calculating the review status. This column also includes a url on the submitter’s assertion requirements if supplied, and the gathering strategy.
The distributing organization for this submitted (SCV) report. This column also contains the SCV accession and Variation variety, the day this SCV 1st appeared in ClinVar, and also the day this SCV was final up-to-date in ClinVar.
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Aberrant 5' splice sites in human illness genes: mutation sample, nucleotide composition and comparison of computational applications that forecast their utilization.
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