ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively typical reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the outcome of sequence alterations on RNA splicing advise this variant may perhaps create or strengthen a splice web site. In summary, the out there proof is now inadequate to find out the position of this variant in illness. Consequently, it's been labeled being a Variant of Uncertain Importance.
This sequence modify has an effect on codon 777 on the GAA mRNA. It is a 'silent' adjust, which means that it does not change the encoded amino acid sequence from the GAA protein. This variant also falls at the last nucleotide of exon 16, and that is A part of the consensus splice internet site for this exon. This variant is present in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted from the literature in people influenced with GAA-similar situations.
There is no functional proof in ClinVar for this variation. In case you have generated practical information for this variation, please contemplate submitting that data to ClinVar.
The worldwide minimal allele frequency calculated by the a thousand Genomes Venture. The small allele at this place is indicated in parentheses and could be distinctive within the allele represented by this VCV report.
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The number of variants in ClinVar that are contained in just this gene, that has a url to see the listing of variants.
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Aberrant 5' splice web pages in human sickness genes: mutation pattern, nucleotide construction and comparison of computational equipment that predict their utilization.
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The number of variants in ClinVar for this gene, which include smaller sized variants in the gene and bigger CNVs that overlap or completely comprise the gene.
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Stars stand for the evaluate standing, or the level of evaluation supporting the submitted (SCV) record. This benefit is calculated by NCBI dependant on facts with the submitter.