ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively popular cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to forecast the effect of sequence improvements on RNA splicing counsel this variant may perhaps produce or reinforce a splice web site. In summary, the readily available proof is at the moment insufficient to determine the function of the variant in sickness. Hence, it has been labeled being a Variant of Uncertain Importance.
This sequence adjust 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 on the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is A part of the consensus splice web site for this exon. This variant is present in population databases (rs375311693, gnomAD 0.03%). This variant has not been noted inside the literature in people influenced with GAA-similar disorders.
This date represents the final time this VCV history was current. The update may be resulting from an update to one of the included submitted records (SCVs), or as a result of an update that ClinVar made to the variant like including HGVS expressions or possibly a rs range.
The global small allele frequency calculated from the a thousand Genomes Challenge. The minor allele at this spot is indicated in parentheses and may be distinctive with the allele represented by this VCV file.
The issue for the classification, supplied by the submitter for this submitted (SCV) record. This column also incorporates the affected standing and allele origin of individuals noticed with this variant.
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Examine our regulations for calculating the critique standing. This column also features a hyperlink for the submitter’s assertion conditions if supplied, and the gathering method.
The submitting Corporation for this submitted (SCV) file. This column also involves the SCV accession and version variety, the day this SCV 1st appeared in ClinVar, along with the day that this SCV was very last updated in ClinVar.
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Aberrant 5' splice websites in human condition genes: mutation pattern, nucleotide composition and comparison of computational applications that forecast their utilization.
Stars represent the combination critique standing, or the extent of critique supporting the mixture germline classification for this VCV record.
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