ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively typical reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the impact of sequence variations on RNA splicing counsel this variant may perhaps create or strengthen a splice website. In summary, the offered evidence is at this time inadequate to determine the part of this variant in condition. Thus, it has been classified as a Variant of Unsure Significance.

This sequence modify has an effect on codon 777 on the GAA mRNA. It's a 'silent' transform, this means that it does not change the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon 16, that's Portion of the consensus splice site for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported while in the literature in individuals impacted with GAA-linked circumstances.

This date represents the final time this VCV document was updated. The update can be as a consequence of an update to on the list of integrated submitted data (SCVs), or resulting from an update that ClinVar made towards the variant including incorporating HGVS expressions or maybe a rs selection.

This column involves more details supporting the classification, including citations, the touch upon classification, and in-depth evidence offered as observations with the variant with the submitter.

The ailment for your classification, provided by the submitter for this submitted (SCV) document. This column also involves the influenced position and allele origin of people observed using this variant.

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There won't be any citations for germline classification of this variant in ClinVar. If you recognize of citations for this variation, remember to look at distributing that details to ClinVar.

The volume of variants in ClinVar that happen to be contained inside of this gene, which has a hyperlink to perspective the listing of variants.

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Aberrant five' splice web pages in human sickness genes: mutation pattern, nucleotide composition and comparison of computational equipment that forecast their utilization.

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The number of variants in ClinVar for this gene, which includes scaled-down variants throughout the gene and bigger CNVs that overlap or totally contain the gene.

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Stars depict the evaluate position, or the extent of evaluate supporting the submitted (SCV) record. This benefit is calculated by NCBI based on information in the submitter.