ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively widespread explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the influence of sequence improvements on RNA splicing propose that this variant may possibly create or reinforce a splice internet site. In summary, the readily available evidence is now inadequate to ascertain the job of the variant in ailment. Thus, it has been classified as a Variant of Unsure Significance.

This price is calculated by NCBI depending on information from submitters. Read our procedures for calculating the critique status. The volume of submissions which lead to this review standing is shown in parentheses.

This day represents the last time this VCV record was up to date. The update may very well be on account of an update to on the list of integrated submitted information (SCVs), or on account of an update that ClinVar built to the variant like including HGVS expressions or possibly a rs range.

The global small allele frequency calculated by the a thousand Genomes Challenge. The insignificant allele at this site is indicated in parentheses and will be distinctive within the allele represented by this VCV report.

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 aggregate germline classification for this variant, normally for any monogenic or Mendelian dysfunction as in the ACMG/AMP recommendations, or for response to some drug. This worth is calculated by NCBI based upon details from submitters. Read our guidelines for calculating the aggregate classification.

Browse our procedures for calculating the critique standing. This column also includes a link into the submitter’s assertion criteria if supplied, and the collection system.

The number of variants in ClinVar which have been contained within just this gene, using a hyperlink to perspective the list of variants.

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Aberrant 5' splice web sites in human condition genes: mutation pattern, nucleotide structure and comparison of computational tools that forecast their utilization.

Stars signify the combination overview status, or the extent thr777 of overview supporting the aggregate germline classification for this VCV report.

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Stars symbolize the critique position, or the extent of evaluation supporting the submitted (SCV) history. This price is calculated by NCBI depending on information from the submitter.