Details, Fiction and thr777
Details, Fiction and thr777
Blog Article
ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively popular cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the result of sequence changes on RNA splicing recommend that this variant might develop or bolster a splice web-site. In summary, the offered evidence is currently inadequate to find out the position of this variant in disease. For that reason, it's been categorized as being a Variant of Unsure Importance.
This sequence modify has an effect on codon 777 in the GAA mRNA. It's really a 'silent' modify, indicating that it doesn't alter the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which can be A part of the consensus splice internet site for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant has not been documented from the literature in individuals afflicted with GAA-similar circumstances.
There isn't a practical proof in ClinVar for this variation. In case you have generated purposeful knowledge for this variation, please consider distributing that information to ClinVar.
The worldwide small allele frequency calculated via the 1000 Genomes Challenge. The small allele at this locale is indicated in parentheses and will be various in the allele represented by this VCV report.
The ailment for the classification, provided by the submitter for this submitted (SCV) document. This column also involves the influenced standing and allele origin of individuals noticed using this type of variant.
The mixture germline classification for this variant, usually for a monogenic or Mendelian problem as within the ACMG/AMP guidelines, or for response to the drug. This worth is calculated by NCBI based on facts from submitters. Go through our rules for calculating the aggregate classification.
Examine our guidelines for calculating the overview standing. This column also features a connection for the submitter’s assertion standards if furnished, and the gathering process.
The publishing Corporation for this submitted (SCV) history. This column also features the SCV accession and Variation range, the date this SCV initial appeared in ClinVar, and also thr777 the day that this SCV was final updated in ClinVar.
These citations are identified by LitVar using the rs selection, so They might contain citations for more than one variant at this site. Remember to evaluation the LitVar results diligently on your variant of interest. Report final current Could 19, 2024
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