Details, Fiction and thr777
Details, Fiction and thr777
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ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively prevalent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the result of sequence variations on RNA splicing suggest that this variant might develop or bolster a splice web site. In summary, the out there proof is at this time insufficient to determine the function of this variant in sickness. Thus, it's been classified like a Variant of Unsure Importance.
This sequence modify has an effect on codon 777 with the GAA mRNA. It's a 'silent' improve, that means that it doesn't alter the encoded amino acid sequence of your GAA protein. This variant also falls at the final nucleotide of exon 16, which happens to be Element of the consensus splice internet site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported during the literature in persons impacted with GAA-relevant circumstances.
This date represents the final time this VCV history was updated. The update can be on account of an update to among the integrated submitted data (SCVs), or resulting from an update that ClinVar designed to your variant for example including HGVS expressions or perhaps a rs quantity.
This column features more info supporting the classification, including citations, the comment on classification, and in-depth proof presented as observations in the variant by the submitter.
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Read our procedures for calculating the assessment status. This column also includes a hyperlink towards the submitter’s assertion standards if furnished, and the gathering system.
The distributing Corporation for this submitted (SCV) report. This column also features the SCV accession and Model quantity, the date this SCV initial appeared in ClinVar, and the date this SCV was last up-to-date in ClinVar.
These citations are identified by LitVar using the rs variety, so They could incorporate citations for multiple variant at this area. Be sure to evaluation the LitVar final results cautiously for your personal variant of curiosity. Report last up to date May possibly 19, 2024
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Stars stand for the aggregate overview status, or the extent of assessment supporting the combination germline classification for this VCV record.
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