ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively popular cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the result of sequence changes on RNA splicing suggest this variant may produce or reinforce a splice internet site. In summary, the available proof is presently insufficient to ascertain the job of the variant in disorder. Thus, it's been categorized as being a Variant of Unsure Importance.
This sequence improve influences codon 777 with the GAA mRNA. It's really a 'silent' improve, indicating that it does not change the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon sixteen, and that is Portion of the consensus splice web site for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted inside the literature in individuals influenced with GAA-associated ailments.
This date represents the final time this VCV record was current. The update might be due to an update to one of many provided submitted documents (SCVs), or because of an update that ClinVar created on the variant which include introducing HGVS expressions or perhaps a rs quantity.
This column incorporates additional information supporting the classification, which includes citations, the comment on classification, and specific evidence delivered as observations on the variant through the submitter.
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Browse our procedures for calculating the evaluate standing. This column also includes a hyperlink towards the submitter’s assertion criteria if delivered, and the gathering strategy.
The quantity of variants in ClinVar which have been contained within this gene, which has a backlink to look at the list of variants.
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Aberrant five' splice websites in human condition genes: mutation pattern, nucleotide construction and comparison of computational equipment that predict their utilization.
Stars represent the combination overview status, or the extent of assessment supporting the aggregate germline classification for this VCV report.
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