ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively typical cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence improvements on RNA splicing propose this variant may well produce or improve a splice website. In summary, the obtainable proof is currently insufficient to determine the function of the variant in illness. For that reason, it has been labeled like a Variant of Uncertain Significance.
This worth is calculated by NCBI according to information from submitters. Browse our principles for calculating the evaluate status. The quantity of submissions which lead to this evaluate standing is shown in parentheses.
This date represents the last time this VCV document was up to date. The update may be as a consequence of an update to among the incorporated submitted records (SCVs), or because of an update that ClinVar produced on the variant which include introducing HGVS expressions or possibly a rs selection.
The worldwide minimal allele frequency calculated with the 1000 Genomes Challenge. The minimal allele at this spot is indicated in parentheses and may be diverse through the allele represented by this VCV report.
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The mixture germline classification for this variant, normally for just a monogenic or Mendelian dysfunction as within the ACMG/AMP tips, or for reaction to the drug. This benefit is calculated by NCBI according to knowledge from submitters. Examine our procedures for calculating the combination classification.
There isn't any citations for germline classification of the variant in ClinVar. If you know of citations for this variation, please think about submitting that information to ClinVar.
The number of variants in ClinVar which might be contained in this gene, with a connection to look at the list of variants.
These citations are determined by LitVar using the rs selection, so they may involve citations for more than one variant at this site. Please overview the LitVar results diligently for your variant of curiosity. Record past up-to-date Could 19, 2024
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Stars symbolize the assessment status, or the extent of evaluate supporting the submitted (SCV) history. This price is calculated by NCBI determined by knowledge through the submitter.