ClinVar contains 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 created to predict the result of sequence variations on RNA splicing suggest this variant may make or fortify a splice web page. In summary, the accessible evidence is currently insufficient to ascertain the job of the variant in ailment. For that reason, it has been classified to be a Variant of Unsure Significance.
This sequence alter influences codon 777 from the GAA mRNA. It's really a 'silent' adjust, meaning that it does not alter the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that is part of the consensus splice internet site for this exon. This variant is present in population databases (rs375311693, gnomAD 0.03%). This variant has not been claimed within the literature in persons affected with GAA-connected ailments.
This date represents the last time this VCV document was up-to-date. The update may be as a consequence of an update to one of several bundled submitted records (SCVs), or as a result of an update that ClinVar manufactured into the variant such as adding HGVS expressions or even a rs variety.
This column incorporates additional information supporting the classification, like citations, the comment on classification, and specific evidence delivered as observations on the variant thr777 from the submitter.
The ailment to the classification, furnished by the submitter for this submitted (SCV) file. This column also includes the influenced position and allele origin of individuals observed using this type of variant.
The mixture germline classification for this variant, ordinarily for a monogenic or Mendelian condition as inside the ACMG/AMP pointers, or for reaction to your drug. This price is calculated by NCBI dependant on data from submitters. Study our guidelines for calculating the aggregate classification.
There are no citations for germline classification of the variant in ClinVar. If you know of citations for this variation, please look at distributing that information and facts to ClinVar.
The volume of variants in ClinVar which have been contained within just this gene, using a hyperlink to view the listing of variants.
These citations are discovered by LitVar using the rs range, so they may incorporate citations for multiple variant at this place. You should review the LitVar benefits carefully to your variant of fascination. History final up to date May well 19, 2024
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Stars stand for the mixture assessment position, or the level of review supporting the combination germline classification for this VCV history.
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