ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively widespread explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the influence of sequence adjustments on RNA splicing advise this variant may perhaps develop or bolster a splice web-site. In summary, the accessible proof is at this time inadequate to find out the position of this variant in condition. As a result, it has been categorised for a Variant of Unsure Significance.
This sequence alter has an effect on codon 777 of the GAA mRNA. It's really a 'silent' transform, which means that it doesn't change the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon 16, which happens to be Component of the consensus splice internet site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been documented inside the literature in folks afflicted with GAA-associated conditions.
This date represents the final time this VCV report was up to date. The update may very well be resulting from an update to among the provided submitted data (SCVs), or due to an update that ClinVar produced on the variant for instance introducing HGVS expressions or a rs amount.
The global minor allele frequency calculated by the a thousand Genomes Job. The minor allele at this place is indicated in parentheses and may be various from the allele represented by this VCV record.
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There aren't any citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, make sure you contemplate submitting that info to ClinVar.
The number of variants in ClinVar that are contained in just this gene, that has a website link to see the listing of variants.
These citations are identified by LitVar using the rs number, so They might involve citations for more than one variant at this site. Please overview the LitVar results meticulously for your variant of curiosity. File past updated Could 19, 2024
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Stars characterize the aggregate review standing, or the level of evaluate supporting the combination germline classification for this VCV document.
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