ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively widespread reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to forecast the impact of sequence improvements on RNA splicing counsel this variant may produce or reinforce a splice web site. In summary, the readily available proof is at the moment insufficient to determine the job of the variant in disorder. For that reason, it has been classified as a Variant of Unsure Significance.
This sequence alter has an effect on codon 777 in the GAA mRNA. It is a 'silent' adjust, which means that it doesn't alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon sixteen, that's Portion of the consensus splice web page for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported while in the literature in individuals impacted with GAA-linked conditions.
This date signifies the final time this VCV document was up-to-date. The update might be as a consequence of an update to one of many involved submitted documents (SCVs), or as a result of an update that ClinVar designed to the variant like including HGVS expressions or possibly a rs range.
The global minor allele frequency calculated by the a thousand Genomes Job. The slight allele at this area is indicated in parentheses and may be distinctive with the allele represented by this VCV file.
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There are no citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, be sure to consider publishing that facts to ClinVar.
The submitting Group for this submitted (SCV) document. This column also features the SCV accession and Model number, the date this SCV first appeared in ClinVar, plus the date this SCV thr777 was last up to date in ClinVar.
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The quantity of variants in ClinVar for this gene, such as scaled-down variants within the gene and larger CNVs that overlap or absolutely have the gene.
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