ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively typical reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the outcome of sequence changes on RNA splicing recommend that this variant could generate or improve a splice web-site. In summary, the obtainable evidence is presently inadequate to ascertain the purpose of the variant in ailment. Consequently, it's been categorised for a Variant of Uncertain Significance.
This sequence transform has an effect on codon 777 of your GAA mRNA. This is a 'silent' change, that means that it doesn't change the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon 16, that's Portion of the consensus splice site for this exon. This variant is present in population databases (rs375311693, gnomAD 0.03%). This variant has not been noted inside the literature in individuals afflicted with GAA-linked conditions.
There isn't any useful evidence in ClinVar for this variation. When you've got produced useful data for this variation, remember to think about submitting that information to ClinVar.
The global minimal allele frequency calculated with the one thousand Genomes Undertaking. The slight allele at this locale is indicated in parentheses and will be different from your allele represented by this VCV document.
The affliction for that classification, supplied by the submitter for this submitted (SCV) report. This column also consists of the affected standing and allele origin of individuals noticed with this variant.
The mixture germline classification for this variant, ordinarily for the monogenic or Mendelian condition as in the ACMG/AMP pointers, or for response to some drug. This price is calculated by NCBI according to knowledge from submitters. Browse our procedures for calculating the combination classification.
There are no citations for germline classification of this variant in ClinVar. If you recognize of citations for thr777 this variation, please look at publishing that facts to ClinVar.
The submitting Business for this submitted (SCV) report. This column also consists of the SCV accession and Edition variety, the day this SCV initial appeared in ClinVar, and also the date that this SCV was final current in ClinVar.
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Aberrant 5' splice internet sites in human sickness genes: mutation sample, nucleotide construction and comparison of computational equipment that predict their utilization.
Stars represent the combination overview status, or the extent of assessment supporting the aggregate germline classification for this VCV report.
The amount of variants in ClinVar for this gene, including scaled-down variants inside the gene and bigger CNVs that overlap or totally consist of the gene.
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Stars depict the overview standing, or the extent of overview supporting the submitted (SCV) file. This worth is calculated by NCBI depending on info in the submitter.