ClinVar is made up of 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 formulated to forecast the outcome of sequence improvements on RNA splicing advise this variant may perhaps develop or strengthen a splice site. In summary, the out there proof is currently insufficient to ascertain the role of this variant in sickness. Thus, it's been labeled for a Variant of Unsure Importance.
This sequence alter affects codon 777 in the GAA mRNA. This is a 'silent' improve, indicating that it does not change the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon sixteen, that is part of the consensus splice web-site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been claimed inside the literature in people today affected with GAA-related conditions.
This date represents the last time this VCV report was current. The update could be because of an update to one of several bundled submitted records (SCVs), or because of an update that ClinVar created to your variant which include introducing HGVS expressions or a rs quantity.
The global insignificant allele frequency calculated via the one thousand Genomes Task. The small allele at this spot is indicated in parentheses and will be diverse from the allele represented by this VCV file.
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The mixture germline classification for this variant, usually for any monogenic or Mendelian ailment as in the ACMG/AMP pointers, or for reaction into a drug. This worth is calculated by NCBI determined by details from submitters. Read through our rules for calculating the aggregate classification.
Go through our principles for calculating the evaluate status. This column also features a link to your submitter’s assertion standards if delivered, and the gathering system.
The submitting Group for this submitted (SCV) document. This column also includes the SCV accession and Model amount, the day this SCV very first appeared in ClinVar, and the date this SCV was final up-to-date in ClinVar.
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Aberrant 5' splice websites in human illness genes: mutation pattern, nucleotide composition and comparison of computational applications that forecast their utilization.
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The quantity of variants in ClinVar for this gene, which includes lesser variants inside the gene and bigger CNVs that overlap or entirely incorporate the gene.
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Stars characterize the critique standing, or the level of review supporting the submitted (SCV) document. This price is calculated by NCBI dependant on details from the submitter.