ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a relatively common explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the result of sequence variations on RNA splicing suggest this variant may well generate or fortify a splice internet site. In summary, the out there proof is now insufficient to find out the part of the variant in illness. For that reason, it's been classified being a Variant of Unsure Significance.
This worth is calculated by NCBI according to knowledge from submitters. Browse our principles for calculating the assessment standing. The number of submissions which contribute to this evaluate status is demonstrated in parentheses.
This day signifies the final time this VCV record was updated. The update may very well be due to an update to on the list of bundled submitted information (SCVs), or resulting from an update that ClinVar created on the variant which include adding HGVS expressions or perhaps a rs selection.
The worldwide minimal allele frequency calculated with the 1000 Genomes Task. The minimal allele at this spot is indicated in parentheses and will be unique within the allele represented by this VCV report.
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There isn't any citations for germline classification of the variant in ClinVar. If you understand of citations for this variation, you should take into consideration submitting that info to ClinVar.
The volume of variants in ClinVar which can be contained inside this gene, using a backlink to view the listing of variants.
These citations are determined by LitVar using the rs range, so They could incorporate citations for more than one variant at this locale. Remember to evaluation the LitVar results carefully on your variant of fascination. Report very last up-to-date May 19, 2024
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Stars symbolize the combination critique standing, or the extent of assessment supporting the aggregate germline classification for this VCV document.
The volume of variants in ClinVar for this gene, including smaller variants within the gene and bigger CNVs that overlap thr777 or fully include the gene.
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Stars stand for the assessment status, or the level of overview supporting the submitted (SCV) file. This benefit is calculated by NCBI determined by details through the submitter.