The aggregate germline classification for this variant, ordinarily for just a monogenic or Mendelian dysfunction as while in the ACMG/AMP guidelines, or for reaction into a drug. This worth is calculated by NCBI based on details from submitters. Read through our guidelines for calculating the combination classification.

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This sequence modify impacts codon 777 from the GAA mRNA. It is just a 'silent' transform, that means that it does not alter the encoded amino acid sequence of your GAA protein. This variant also falls at the final nucleotide of exon sixteen, that is Portion of the consensus splice web-site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted in the literature in people afflicted with GAA-linked circumstances.

Aberrant 5' splice websites in human condition genes: mutation pattern, nucleotide composition and comparison of computational instruments that predict their utilization.

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There aren't any citations for germline classification of the variant in ClinVar. If you recognize of citations for this variation, make sure you consider distributing that details to ClinVar.

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The distributing Firm for this submitted (SCV) file. This column also contains the SCV accession and version selection, the day this SCV very first appeared in ClinVar, as well as the day that this SCV was final up-to-date in ClinVar.

03%). This variant has not been claimed from the literature in men and women afflicted with GAA-linked problems. ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a comparatively widespread reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to forecast the effect of sequence variations on RNA splicing advise that this variant may well develop login thr777 or strengthen a splice web-site. In summary, the obtainable proof is at present insufficient to ascertain the part of the variant in condition. Hence, it has been labeled as a Variant of Uncertain Importance. Alright

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These citations are discovered by LitVar utilizing the rs variety, so They might contain citations for multiple variant at this locale. Be sure to critique the LitVar effects cautiously for your variant of desire. Report previous updated May perhaps twelve, 2024 

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The global slight allele frequency calculated because of the a thousand Genomes Project. The minor allele at this place is indicated in parentheses and will be distinct through the allele represented by this VCV report.

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