ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to forecast the influence of sequence modifications on RNA splicing recommend that this variant could generate or improve a splice web page. In summary, the obtainable evidence is presently insufficient to ascertain the job of the variant in disorder. Hence, it's been categorised being a Variant of Uncertain Significance.

This sequence improve influences codon 777 from the GAA mRNA. It's a 'silent' change, indicating that it doesn't change the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon 16, that is Portion of the consensus splice site for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported while in the literature in people impacted with GAA-similar disorders.

There is no practical evidence in ClinVar for this variation. For those who have generated practical data for this variation, be sure to take into consideration distributing that data to ClinVar.

The worldwide minimal allele frequency calculated by the one thousand Genomes Undertaking. The minimal allele at this locale is indicated in parentheses and could be different in the allele represented by this VCV record.

The issue for your classification, furnished by the submitter for this submitted (SCV) document. This column also features the impacted position and allele origin of individuals observed using this type of variant.

The mixture germline classification for this variant, ordinarily to get a monogenic or Mendelian condition as from the ACMG/AMP rules, or for reaction to a drug. This value is calculated by NCBI depending on knowledge from submitters. Examine our procedures for calculating the combination classification.

There isn't any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, please think about submitting that information to ClinVar.

The distributing organization for this submitted (SCV) report. This column also contains the SCV accession and Variation variety, the date this SCV initially appeared in ClinVar, along with the day that this SCV was very last updated in ClinVar.

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Aberrant five' splice web-sites in human sickness genes: mutation sample, nucleotide framework and comparison of computational equipment that predict their utilization.

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