ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively popular cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the influence of sequence modifications on RNA splicing recommend that this variant could generate or bolster a splice web-site. In summary, the available proof is at this time inadequate to find out the part of this variant in illness. Consequently, it's been labeled being a Variant of Uncertain Importance.
This sequence change influences codon 777 from 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 A part of the consensus splice web-site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been claimed inside the literature in people today impacted with GAA-similar problems.
This day signifies the final time this VCV document was up to date. The update may very well be on account of an update to on the list of integrated submitted information (SCVs), or resulting from an update that ClinVar built to the variant including including HGVS expressions or possibly a rs range.
The global minor allele frequency calculated by the one thousand Genomes Task. The insignificant allele at this place is indicated in parentheses and could be distinctive with the allele represented by this VCV file.
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There are no citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, make sure you take into account publishing that information to ClinVar.
The amount of variants in ClinVar which are contained within this gene, which has a url to check out the listing of variants.
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Aberrant 5' splice sites in human illness genes: mutation sample, nucleotide composition and comparison of computational applications that forecast their utilization.
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Stars signify the evaluation standing, or the level of review supporting the submitted (SCV) history. This benefit is calculated by NCBI based on information from your submitter.