ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively typical reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the effect of sequence alterations on RNA splicing advise this variant may well build or strengthen a splice website. In summary, the offered evidence is at present insufficient to determine the role of the variant in disorder. Thus, it's been categorized as being a Variant of Unsure Importance.

This value is calculated by NCBI based on details from submitters. Examine our policies for calculating the assessment position. The quantity of submissions which contribute to this evaluate status is revealed in parentheses.

This date represents the final time this VCV history was updated. The update could possibly be due to an update to on the list of included submitted information (SCVs), or as a consequence of an update that ClinVar made for the variant for instance introducing HGVS expressions or a rs number.

The global insignificant allele frequency calculated by the a thousand Genomes Task. The slight allele at this area is indicated in parentheses and may be different within the allele represented by this VCV report.

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Read our rules for calculating the review position. This column also includes a website link towards the submitter’s assertion criteria if delivered, and the gathering approach.

The number of variants in ClinVar that are contained in just this gene, that has a url to watch the listing of variants.

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The volume of variants in ClinVar for this gene, such as smaller sized variants throughout the gene and larger CNVs that overlap or absolutely incorporate the gene.

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Stars symbolize the assessment status, or the extent of critique supporting the submitted (SCV) report. This price is calculated by NCBI determined by knowledge through the submitter.