What Does thr777 Mean?
What Does thr777 Mean?
Blog Article
ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively prevalent cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the result of sequence alterations on RNA splicing advise this variant may well build or strengthen a splice website. In summary, the accessible proof is at the moment insufficient to ascertain the part of this variant in disease. Thus, it has been labeled like a Variant of Unsure Significance.
This sequence adjust impacts codon 777 with the GAA mRNA. This is a 'silent' change, indicating that it does not change the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is Component of the consensus splice web page for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported while in the literature in individuals impacted with GAA-related conditions.
This day signifies the final time this VCV history was updated. The update could possibly be as a result of an update to among the list of included submitted documents (SCVs), or on account of an update that ClinVar designed for the variant for example incorporating HGVS expressions or simply a rs amount.
The worldwide slight allele frequency calculated via the 1000 Genomes Undertaking. The minor allele at this spot is indicated in parentheses and may be distinct through the allele represented by this VCV file.
The problem for the classification, supplied by the submitter for this submitted (SCV) record. This column also features the impacted position and allele origin of individuals observed using this type of variant.
The mixture germline classification for this variant, commonly for a monogenic or Mendelian condition as while in the ACMG/AMP rules, or for response to your drug. This price is calculated by NCBI based upon data from submitters. Study our principles for calculating the mixture classification.
There aren't any citations for germline classification of this variant in ClinVar. If you recognize of citations for this variation, you should look at distributing that data to ClinVar.
The publishing Group for this submitted (SCV) document. This column also includes the SCV accession and Model thr777 number, the day this SCV initial appeared in ClinVar, as well as date that this SCV was past up to date in ClinVar.
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Stars stand for the mixture assessment position, or the level of evaluation supporting the combination germline classification for this VCV file.
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