ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively typical reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to predict the impact of sequence changes on RNA splicing recommend this variant may possibly generate or improve a splice web page. In summary, the obtainable evidence is now insufficient to ascertain the function of the variant in ailment. For that reason, it's been categorised as a Variant of Uncertain Importance.
This sequence adjust affects codon 777 on the GAA mRNA. It's really a 'silent' adjust, which means that it does not change the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which can be A part of the consensus splice site for this exon. This variant is present in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been documented within the literature in persons influenced with GAA-connected disorders.
There is absolutely no useful evidence in ClinVar for this variation. Should you have generated purposeful facts for this variation, please look at distributing that details to ClinVar.
The global insignificant allele frequency calculated through the one thousand Genomes Venture. The minor allele at this locale is indicated in parentheses and may be various within the allele represented by this VCV record.
The situation with the classification, furnished by the submitter for this submitted (SCV) file. This column also features the influenced position and allele origin of individuals observed using this variant.
The combination germline classification for this variant, usually for the monogenic or Mendelian dysfunction as from the ACMG/AMP rules, or for response to your drug. This benefit is calculated by NCBI depending on details from submitters. Read through our rules for calculating the combination classification.
Read our principles for calculating the assessment standing. This column also features a connection on the submitter’s assertion criteria if offered, and the collection system.
The distributing Group for this submitted (SCV) record. This column also includes the SCV accession and Model amount, the day this SCV very first appeared in ClinVar, and the date this SCV was final up-to-date in ClinVar.
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Stars stand for the aggregate evaluate standing, or the level of evaluate supporting the mixture germline classification for this VCV record.
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