ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively frequent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the outcome of sequence adjustments on RNA splicing propose that this variant may possibly make or improve a splice web page. In summary, the accessible evidence is currently inadequate to find out the position of this variant in illness. Consequently, it's been labeled being a Variant of Uncertain Importance.
This price is calculated by NCBI dependant on details from submitters. Examine our policies for calculating the assessment standing. The amount of submissions which add to this overview status is demonstrated in parentheses.
This date signifies the last time this VCV file was up to date. The update could possibly be because of an update to one of many bundled submitted records (SCVs), or as a consequence of an update that ClinVar produced on the variant for instance introducing HGVS expressions or a rs variety.
The global minor allele frequency calculated via the a thousand Genomes Task. The slight allele at this area is indicated in parentheses and may be distinctive within the allele represented by this VCV file.
The affliction for your classification, furnished by the submitter for this submitted (SCV) document. This column also contains the impacted position and allele origin of individuals observed using this type of variant.
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There isn't any citations for germline classification of the variant in ClinVar. If you thr777 already know of citations for this variation, be sure to take into consideration publishing that facts to ClinVar.
The distributing Corporation for this submitted (SCV) document. This column also involves the SCV accession and version selection, the date this SCV to start with appeared in ClinVar, along with the day that this SCV was very last updated in ClinVar.
These citations are discovered by LitVar using the rs variety, so They could incorporate citations for multiple variant at this area. Be sure to evaluation the LitVar effects diligently for the variant of fascination. History final up to date May well 19, 2024
Aberrant five' splice internet sites in human disorder genes: mutation pattern, nucleotide construction and comparison of computational resources that predict their utilization.
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Stars depict the overview standing, or the level of review supporting the submitted (SCV) record. This benefit is calculated by NCBI dependant on details with the submitter.