ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively typical reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the impact of sequence modifications on RNA splicing suggest this variant may build or reinforce a splice site. In summary, the out there proof is now inadequate to find out the job of this variant in disease. Hence, it has been classified for a Variant of Uncertain Importance.
This sequence improve influences codon 777 of the GAA mRNA. It is a 'silent' adjust, meaning that it does not alter the encoded amino acid sequence with the GAA protein. This variant also falls at the final nucleotide of exon sixteen, that is Section of the consensus splice website for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted inside the literature in men and women influenced with GAA-linked disorders.
This date represents the final time this VCV file was current. The update may be due to an update to one of several involved submitted records (SCVs), or as a result of an update that ClinVar produced to the variant for instance introducing HGVS expressions or simply a rs range.
The worldwide small allele frequency calculated from the 1000 Genomes Job. The insignificant allele at this site is indicated in parentheses and should be different from your allele represented by this VCV file.
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There aren't any citations for germline classification of the variant in ClinVar. If you know of citations for this variation, make sure you contemplate submitting that info to ClinVar.
The publishing Business for this submitted (SCV) history. This column also involves the SCV accession and version range, the date this SCV initially appeared in ClinVar, as well as the day this SCV was previous current in ClinVar.
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The number of variants in ClinVar for this gene, including more compact variants inside the gene and larger CNVs that overlap or totally have the gene.
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