The outcome with the variant on RNA or protein purpose, based on experimental proof from submitters.
This sequence transform affects codon 777 of your GAA mRNA. This is a 'silent' change, that means that it doesn't change the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon 16, which happens to be Element of the consensus splice web site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented in the literature in men and women afflicted with GAA-associated problems.
This date represents the final time this VCV record was up-to-date. The update could possibly be resulting from an update to one of several incorporated submitted data (SCVs), or due to an update that ClinVar produced on the variant for instance introducing HGVS expressions or a rs quantity.
This column contains more information supporting the classification, together with citations, the touch upon classification, and specific evidence supplied as observations of the variant through the submitter.
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The mixture germline classification for this variant, commonly for your monogenic or Mendelian ailment as while in the ACMG/AMP suggestions, or for reaction to your drug. This benefit is calculated by NCBI determined by knowledge from submitters. Read our guidelines for calculating the mixture classification.
Study our rules for calculating the overview position. This column also features a link towards the submitter’s assertion standards if offered, and the gathering technique.
The publishing Corporation for this submitted (SCV) document. This column also consists of the SCV accession and Variation variety, the day this SCV to start with appeared in ClinVar, and the day that this SCV was very last updated in ClinVar.
These citations are discovered by LitVar using the rs variety, so They could incorporate citations for multiple variant at this place. Be sure to evaluation the LitVar effects cautiously to your variant of interest. History previous current Might 19, 2024
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Stars characterize the mixture evaluate position, or the extent of assessment supporting the aggregate germline classification for this VCV history.
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