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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively frequent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the effect of sequence alterations on RNA splicing suggest this variant might develop or bolster a splice internet site. In summary, the out there proof is at this time inadequate to find out the part of this variant in ailment. For that reason, 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 date signifies the final time this VCV history was updated. The update could possibly be because of an update to among the list of bundled submitted records (SCVs), or as a result of an update that ClinVar designed into the variant such as adding HGVS expressions or even a rs amount.
This column includes more info supporting the classification, like citations, the comment on classification, and in-depth evidence delivered as observations of your variant because of the submitter.
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There are no citations for germline classification of the variant in ClinVar. If you know of citations for this variation, be sure to take into consideration distributing that data to ClinVar.
The amount of variants in ClinVar which are contained within this gene, which has a url to check out the listing of variants.
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Aberrant five' splice web-sites in human sickness genes: mutation sample, nucleotide composition and comparison of computational applications that forecast their utilization.
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The quantity of variants in ClinVar for this gene, which includes lesser variants inside the gene and bigger CNVs that overlap or totally consist of the gene.
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