ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively prevalent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the result of sequence modifications on RNA splicing recommend that this variant may well build or strengthen a splice website. In summary, the offered evidence is at present insufficient to determine the role of the variant in disorder. Thus, it has been classified as a Variant of Unsure Significance.
This sequence alter has an effect on codon 777 in the GAA mRNA. It's really a 'silent' adjust, meaning that it does not alter the encoded amino acid sequence from the GAA protein. This variant also falls at the last nucleotide of exon 16, which is Element of the consensus splice internet site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant has not been documented within the literature in men and women influenced with GAA-associated disorders.
This date represents the last time this VCV report was up to date. The update could be because of an update to among the list of included submitted data (SCVs), or as a result of an update that ClinVar made to the variant such as incorporating HGVS expressions or simply a rs amount.
The worldwide slight allele frequency calculated with the 1000 Genomes Venture. The minor allele at this location is indicated in parentheses and could be diverse through the allele represented by this VCV document.
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The aggregate germline classification for this variant, usually for your monogenic or Mendelian condition as within the ACMG/AMP tips, or for reaction into a drug. This value is calculated by NCBI depending on facts from submitters. Browse our rules for calculating the mixture classification.
There aren't any citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, be sure to take into consideration publishing that information to ClinVar.
The quantity of variants in ClinVar that are contained inside of this gene, with a connection to watch the list of variants.
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Stars depict the evaluation standing, or the extent of assessment supporting the submitted (SCV) file. This worth is calculated by NCBI depending on info from your submitter.