thr777 No Further a Mystery
thr777 No Further a Mystery
Blog Article
ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively prevalent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the influence of sequence modifications on RNA splicing recommend that this variant may possibly produce or strengthen a splice web-site. In summary, the offered evidence is now inadequate to find out the purpose of this variant in ailment. For that reason, it has been classified for a Variant of Unsure Significance.
This sequence modify affects codon 777 with the GAA mRNA. It's really a 'silent' change, meaning that it does not alter the encoded amino acid sequence in the GAA protein. This variant also falls at the last nucleotide of exon sixteen, and that is Component of the consensus splice website for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been claimed while in the literature in people impacted with GAA-similar situations.
This day signifies the final time this VCV file was up-to-date. The update could be because of an update to among the included submitted information (SCVs), or because of an update that ClinVar made into the variant which include incorporating HGVS expressions or simply a rs amount.
This column includes additional information supporting the classification, including citations, the comment on classification, and thorough evidence furnished as observations on the variant with the submitter.
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There won't be any citations for germline classification of the variant in ClinVar. If you realize of citations for this variation, remember to contemplate publishing that info to ClinVar.
The submitting organization for this submitted (SCV) record. This column also features the SCV accession and Edition range, the date this SCV initially appeared in ClinVar, along with the day this SCV was past up to date in ClinVar.
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