About thr777
About thr777
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ClinVar includes 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 forecast the effect of sequence alterations on RNA splicing advise this variant may perhaps create or fortify a splice site. In summary, the readily available evidence is at present inadequate to ascertain the purpose of the variant in disease. Thus, it has been categorized to be a Variant of Uncertain Significance.
This sequence transform has an effect on codon 777 with the GAA mRNA. This is a 'silent' alter, this means that it does not alter the encoded amino acid sequence of the GAA protein. This variant also falls at the final nucleotide of exon 16, which happens to be A part of the consensus splice site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented inside the literature in folks impacted with GAA-related problems.
This date represents the last time this VCV document was updated. The update can be as a result of an update to among the list of incorporated submitted records (SCVs), or as a result of an update that ClinVar made towards the variant like introducing HGVS expressions or perhaps a rs selection.
The global insignificant allele frequency calculated from the a thousand Genomes Undertaking. The small allele at this location is indicated in parentheses and could be different in the allele represented by this VCV record.
The condition for that classification, provided by the submitter for this submitted (SCV) history. This column also involves the afflicted standing and allele origin of people observed with this particular variant.
The aggregate germline classification for this variant, normally for the monogenic or Mendelian dysfunction as within the ACMG/AMP tips, or for response to your drug. This price is calculated by NCBI dependant on information from submitters. Go through our policies for calculating the mixture classification.
Read through our policies for calculating the overview status. This column also features a backlink into the submitter’s assertion standards if offered, and the gathering technique.
The amount of variants in ClinVar which can be contained inside of this gene, using a hyperlink to watch the list of variants.
These citations are recognized by LitVar utilizing the rs quantity, so They might consist of citations for more than one variant at this location. Please evaluate the LitVar final results cautiously in your variant of interest. File final up-to-date May 19, 2024
Aberrant five' splice sites in human illness genes: mutation sample, nucleotide composition and comparison of computational applications that forecast their utilization.
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The quantity of variants in ClinVar for this gene, such as lesser variants inside the gene and bigger CNVs that overlap or totally consist of the gene.
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Stars stand for the review position, or the level of assessment supporting the submitted (SCV) document. This value is calculated by NCBI based on data from the submitter.