ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively frequent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the outcome of sequence alterations on RNA splicing recommend this variant may generate or bolster a splice web page. In summary, the available evidence is at this time insufficient to ascertain the role of this variant in disease. Consequently, it has been classified as a Variant of Unsure Importance.
This sequence alter influences codon 777 in the GAA mRNA. It's really a 'silent' adjust, meaning that it does not alter the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which can be Portion of the consensus splice site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant has not been described within the literature in persons affected with GAA-connected disorders.
There's no practical evidence in ClinVar for this variation. In case you have generated functional data for this variation, you should take into account submitting that data to ClinVar.
The worldwide minor allele frequency calculated from the one thousand Genomes Task. The minimal allele at this locale is indicated in parentheses and may be distinctive from your allele represented by this VCV document.
The situation with the classification, furnished by the submitter for this submitted (SCV) report. This column also consists of the affected position and allele origin of individuals noticed with this particular variant.
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There aren't any citations for germline classification of the variant in ClinVar. If you already know of citations for this variation, remember to consider distributing that information to ClinVar.
The publishing Corporation for this submitted (SCV) record. This column also consists of the SCV accession and version quantity, the day this SCV to start with appeared in ClinVar, and also the date this SCV was final up to date in ClinVar.
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Aberrant five' splice web pages in human sickness genes: mutation pattern, nucleotide structure and comparison of computational applications that predict their utilization.
Stars stand for the mixture evaluation standing, or the extent of review supporting the combination germline classification for this VCV record.
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