ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively common explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to forecast the result of sequence alterations on RNA splicing propose this variant may create or fortify a splice internet site. In summary, the available proof is at the moment inadequate to determine the job of this variant in condition. Thus, it's been classified for a Variant of Unsure Importance.
This sequence adjust impacts codon 777 in the GAA mRNA. It is a 'silent' change, this means that it doesn't alter the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon 16, that is Portion of the consensus splice web page for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been described during the literature in folks afflicted with GAA-connected conditions.
This date represents the last time this VCV history was updated. The update may very well be resulting from an update to one of many incorporated submitted documents (SCVs), or because of an update that ClinVar manufactured to your variant such as incorporating HGVS expressions or a rs number.
This column incorporates more information supporting the classification, which includes citations, the touch upon classification, and in-depth proof supplied as observations on the variant via the submitter.
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The aggregate germline classification for this variant, generally for a monogenic or Mendelian problem as during the ACMG/AMP suggestions, or for response to your drug. This worth is calculated thr777 by NCBI determined by knowledge from submitters. Study our rules for calculating the combination classification.
There aren't any citations for germline classification of the variant in ClinVar. If you realize of citations for this variation, you should take into account distributing that info to ClinVar.
The number of variants in ClinVar which have been contained within this gene, that has a website link to watch the listing of variants.
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Stars characterize the mixture evaluation position, or the level of evaluate supporting the aggregate germline classification for this VCV history.
The amount of variants in ClinVar for this gene, including smaller sized variants in the gene and bigger CNVs that overlap or fully include the gene.
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Stars characterize the review status, or the level of assessment supporting the submitted (SCV) history. This benefit is calculated by NCBI depending on facts from the submitter.