ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively popular reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to forecast the outcome of sequence modifications on RNA splicing suggest this variant might build or improve a splice web-site. In summary, the readily available proof is at present inadequate to determine the job of the variant in illness. Hence, it's been classified being a Variant of Unsure Importance.
This sequence adjust influences codon 777 with the GAA mRNA. This is a 'silent' adjust, this means that it does not alter the encoded amino acid sequence on the GAA protein. This variant also falls at the last nucleotide of exon 16, that is Section of the consensus splice web site for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been described in the literature in people today influenced with GAA-connected disorders.
There is not any functional proof in ClinVar for this variation. In case you have created purposeful data for this variation, make sure you take into consideration publishing that facts to ClinVar.
The worldwide slight allele frequency calculated via the a thousand Genomes Job. The insignificant allele at this area is indicated in parentheses and will be distinct from your allele represented by this VCV document.
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The combination germline classification for this variant, usually for a monogenic or Mendelian problem as from the ACMG/AMP guidelines, or for reaction to the drug. This price is calculated by NCBI based on information from submitters. Go through our policies for calculating the combination classification.
Browse our regulations for calculating the critique status. This column also features a hyperlink into the submitter’s assertion standards if provided, and the collection method.
The volume of variants in ClinVar which might be contained within this gene, which has a url to view the list of variants.
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Stars stand for the combination evaluation thr777 status, or the level of assessment supporting the mixture germline classification for this VCV report.
The number of variants in ClinVar for this gene, which includes more compact variants in the gene and larger CNVs that overlap or fully contain the gene.
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