ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a relatively widespread cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the effect of sequence improvements on RNA splicing counsel that this variant may possibly develop or improve a splice web-site. In summary, the accessible proof is now inadequate to determine the part of the variant in disease. Hence, it has been labeled as a Variant of Uncertain Significance.
This sequence alter has an effect on codon 777 on the GAA mRNA. It's a 'silent' improve, that means that it doesn't change the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon 16, which happens to be Section of the consensus splice website for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted from the literature in people impacted with GAA-relevant problems.
This day signifies the last time this VCV file was up-to-date. The update might be on account of an update to one of the integrated submitted information (SCVs), or as a result of an update that ClinVar manufactured towards the variant for example incorporating HGVS expressions or simply a rs selection.
The worldwide slight allele frequency calculated with the 1000 Genomes Job. The minimal allele at this place is indicated in parentheses and could be distinctive within the allele represented by this VCV report.
The problem with the classification, supplied by the submitter for this submitted (SCV) history. This column also involves the afflicted status and allele origin of people noticed with this particular variant.
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Browse our regulations for calculating the overview status. This column also includes a website link on the submitter’s assertion requirements if provided, and the gathering strategy.
The distributing Corporation for this submitted (SCV) file. This column also contains the SCV accession and version variety, the day this SCV very first appeared in ClinVar, plus the day this SCV was past updated in ClinVar.
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Aberrant 5' splice web sites in human ailment genes: mutation pattern, nucleotide composition and comparison of computational instruments that predict their utilization.
Stars represent the combination assessment position, or the level of review supporting the mixture germline classification for this VCV document.
The number of variants in ClinVar for this gene, which include smaller sized variants inside the gene and larger CNVs that overlap or fully include the gene.
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