The effect in the variant on RNA or protein function, based upon experimental proof from submitters.
This sequence alter influences codon 777 in the GAA mRNA. It is a 'silent' adjust, which means that it doesn't alter the encoded amino acid sequence in the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that is Element of the consensus splice internet site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been claimed inside the literature in people today affected with GAA-relevant conditions.
This date represents the last time this VCV report was updated. The update could possibly be because of an update to one of several included submitted records (SCVs), or as a result of an update that ClinVar designed into the variant like including HGVS expressions or even a rs variety.
This column incorporates additional information supporting the classification, which includes citations, the touch upon classification, and thorough evidence furnished as observations in the variant with the submitter.
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The mixture germline classification for this variant, ordinarily for a monogenic or Mendelian condition as while in the ACMG/AMP pointers, or for reaction to the drug. This benefit is calculated by NCBI based on information from submitters. Go through our policies for calculating the mixture classification.
Go through our procedures for calculating the review status. This column also includes a url to the submitter’s assertion conditions if presented, and the collection technique.
The distributing Group for this submitted (SCV) report. This column also involves the SCV accession and Edition amount, the day this SCV 1st appeared in ClinVar, as well as date that this SCV was past updated in ClinVar.
These citations are recognized by LitVar using the rs range, so They could contain citations for multiple variant at this place. You should evaluation the LitVar effects very carefully for your variant of curiosity. Report past updated May possibly 19, 2024
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The volume of variants in ClinVar for this gene, like smaller sized variants throughout the gene and larger CNVs that overlap or thoroughly comprise the gene.
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Stars symbolize the evaluate standing, or thr777 the extent of review supporting the submitted (SCV) file. This worth is calculated by NCBI based on details within the submitter.