ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the outcome of sequence variations on RNA splicing counsel this variant may generate or reinforce a splice web page. In summary, the offered evidence is now insufficient to ascertain the purpose of this variant in disorder. Thus, it has been classified as being a Variant of Uncertain Significance.
This sequence improve influences codon 777 of the GAA mRNA. It is just a 'silent' modify, meaning that it does not alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is Component 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 during the literature in people influenced with GAA-similar situations.
This day signifies the final time this VCV history was updated. The update could possibly be because of an update to one of several involved submitted data (SCVs), or as a consequence of an update that ClinVar made for the variant for example introducing HGVS expressions or a rs number.
The worldwide minimal allele frequency calculated with the one thousand Genomes Challenge. The minimal allele at this spot is indicated in parentheses and will be various from the allele represented by this VCV history.
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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, you should take into consideration distributing that details to ClinVar.
The number of variants in ClinVar that are contained in just this gene, that has a website link to see the listing of variants.
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Aberrant 5' splice internet sites in human ailment genes: mutation pattern, nucleotide construction and comparison of computational resources that forecast their utilization.
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The volume of variants in ClinVar for this gene, together with smaller sized variants throughout the gene and larger CNVs that overlap or absolutely have the gene.
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