ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively prevalent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the influence of sequence variations on RNA splicing propose that this variant might make or bolster a splice site. In summary, the accessible proof is now inadequate to find out the purpose of the variant in condition. For that reason, it has been classified for a Variant of Unsure Significance.
This sequence alter has an effect on codon 777 on the GAA mRNA. It is a 'silent' change, indicating that it doesn't change the encoded amino acid sequence with the GAA protein. This variant also falls at the final 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 within the literature in persons afflicted with GAA-related disorders.
This date represents the last time this VCV file was current. The update might be as a consequence of an update to one of many involved submitted documents (SCVs), or due to an update that ClinVar created on the variant for instance introducing HGVS expressions or a rs number.
The worldwide slight allele frequency calculated with the 1000 Genomes Project. The insignificant allele at this locale is indicated in parentheses and may be different from the allele represented by this VCV history.
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There isn't any citations for germline classification of the variant in ClinVar. If you recognize of citations for this variation, you should look at distributing that data to ClinVar.
The number of variants in ClinVar that are contained in this gene, having a link to watch the list of variants.
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Stars stand for the mixture assessment status, or the extent of evaluation supporting the combination germline classification for this VCV file.
The volume of variants in ClinVar for this gene, like smaller variants thr777 in the gene and bigger CNVs that overlap or totally consist of the gene.
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Stars depict the overview status, or the extent of critique supporting the submitted (SCV) report. This price is calculated by NCBI determined by info from your submitter.