ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively widespread reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to forecast the result of sequence changes on RNA splicing propose that this variant might produce or strengthen a splice web-site. In summary, the readily available proof is currently insufficient to determine the role of the variant in disease. For that reason, it's been categorised as being a Variant of Uncertain Importance.
This benefit is calculated by NCBI based upon knowledge from submitters. Read through our policies for calculating the assessment position. The amount of submissions which contribute to this evaluation status is proven in parentheses.
This day signifies the last time this VCV document was up to date. The update may be due to an update to one of several included submitted information (SCVs), or as a consequence of an update that ClinVar produced on the variant which include incorporating HGVS expressions or simply a rs selection.
The worldwide small allele frequency calculated from the a thousand Genomes Project. The small allele at this area is indicated in parentheses and will be distinctive in the allele represented by this VCV document.
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There isn't any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, please take into account distributing that data to ClinVar.
The distributing Group for this submitted (SCV) record. This column also contains the SCV accession and Model selection, the day this SCV initial appeared in ClinVar, plus the date that this SCV was final up to date in ClinVar.
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Stars symbolize the combination evaluate standing, or the level of assessment supporting the combination germline classification for this VCV history.
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