ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively typical reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the result of sequence adjustments on RNA splicing advise this variant may well build or strengthen a splice website. In summary, the offered evidence is at present inadequate to find out the purpose of the variant in sickness. Therefore, it's been labeled like a Variant of Uncertain Importance.
This sequence improve impacts codon 777 of your GAA mRNA. This is a 'silent' alter, indicating that it does not change the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon 16, which is part of the consensus splice internet site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been described in the literature in men and women afflicted with GAA-associated ailments.
This day signifies the last time this VCV document was up to date. The update may very well be on account of an update to on the list of integrated submitted information (SCVs), or resulting from an update that ClinVar made towards the variant including including HGVS expressions or possibly a rs range.
The global small allele frequency calculated through the 1000 Genomes Challenge. The minimal allele at this site is indicated in parentheses and will be various in the allele represented by this VCV record.
The ailment to the classification, provided by the submitter for this submitted (SCV) file. This column also consists of the influenced position and allele origin of individuals noticed using this type of variant.
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Read our procedures for calculating the evaluate standing. This column also includes a link into the submitter’s assertion standards if presented, and the collection system.
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 previous current in ClinVar.
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The volume of variants in ClinVar for this gene, which includes smaller variants in the gene and bigger CNVs that overlap or completely comprise the gene.
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Stars signify the evaluation status, or the extent of critique supporting the submitted (SCV) report. This price is calculated by NCBI determined by knowledge from your submitter.