ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a comparatively popular explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the influence of sequence adjustments on RNA splicing propose this variant may possibly build or improve a splice site. In summary, the readily available evidence is at present insufficient to determine the purpose of the variant in disease. Therefore, it's been labeled like a Variant of Uncertain Importance.
This sequence change influences codon 777 from the GAA mRNA. It is a 'silent' transform, meaning that it doesn't alter the encoded amino acid sequence with the GAA protein. This variant also falls at the final nucleotide of exon sixteen, and that is A part of the consensus splice internet site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been claimed while in the literature in individuals influenced with GAA-linked disorders.
This day signifies the final time this VCV record was current. The update may be on account of an update to among the included submitted records (SCVs), or as a consequence of an update that ClinVar manufactured for the variant such as incorporating HGVS expressions or maybe a rs range.
This column consists of more info supporting the classification, such as citations, the comment on classification, and comprehensive evidence furnished as observations in the variant by the submitter.
The ailment for that classification, provided by the submitter for this submitted (SCV) document. This column also consists of the impacted standing and allele origin of individuals observed using this variant.
The aggregate germline classification for this variant, generally for your monogenic or Mendelian disorder as while in the ACMG/AMP suggestions, or for reaction to a drug. This value is calculated by NCBI determined by details from submitters. Read our guidelines for calculating the aggregate classification.
Go through our principles for calculating the assessment status. This column also features a url for the submitter’s thr777 assertion criteria if provided, and the gathering system.
The volume of variants in ClinVar which are contained inside of this gene, using a hyperlink to see the list of variants.
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Aberrant five' splice web-sites in human illness genes: mutation sample, nucleotide framework and comparison of computational equipment that predict their utilization.
Stars represent the aggregate overview standing, or the level of assessment supporting the aggregate germline classification for this VCV record.
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