The result of your variant on RNA or protein operate, determined by experimental evidence from submitters.
This sequence modify affects codon 777 with the GAA mRNA. It is just a 'silent' improve, that means that it doesn't alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon 16, which happens to be A part 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-linked problems.
This day represents the last time this VCV file was up-to-date. The update might be as a consequence of an update to one of several incorporated submitted documents (SCVs), or as a result of an update that ClinVar manufactured into the variant such as adding HGVS expressions or even a rs number.
The worldwide insignificant allele frequency calculated because of the one thousand Genomes Undertaking. The minor allele at this locale is indicated in parentheses and could be diverse through the allele represented by this VCV document.
The situation for that classification, provided by the submitter for this submitted (SCV) history. This column also contains the afflicted status and allele origin of people observed using this variant.
The mixture germline classification for this variant, generally for any monogenic or Mendelian ailment as while in the ACMG/AMP pointers, or for response into a drug. This benefit is calculated by NCBI depending on facts from submitters. Browse our rules for calculating the aggregate classification.
There isn't any citations for germline classification of this variant in ClinVar. If you know of citations for this variation, remember to look at distributing that information to ClinVar.
The number of variants in ClinVar that happen to be contained inside this gene, having a url to watch the listing of variants.
These citations are identified by LitVar using the rs number, so They might include citations for more than one variant at this site. Make sure you critique the LitVar results meticulously for your variant of curiosity. Report past updated May possibly 19, 2024
Aberrant 5' splice web-sites in human disorder genes: mutation sample, nucleotide structure and comparison of computational tools that forecast their utilization.
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The amount of variants in ClinVar for this gene, together with more compact variants throughout the gene and larger CNVs that overlap or thoroughly include the gene.
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Stars depict the overview standing, or the thr777 level of evaluate supporting the submitted (SCV) history. This price is calculated by NCBI based upon facts with the submitter.