ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively common reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to forecast the result of sequence adjustments on RNA splicing suggest this variant may possibly generate or strengthen a splice web site. In summary, the readily available evidence is at this time insufficient to ascertain the position of the variant in condition. Therefore, it's been categorized as being a Variant of Uncertain Importance.
This sequence improve impacts codon 777 with the GAA mRNA. It is just a 'silent' modify, indicating that it doesn't alter the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon 16, which is part of the consensus splice site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented in the literature in men and women afflicted with GAA-associated ailments.
There is no purposeful proof in ClinVar for this variation. If you have created useful facts for this variation, you should take into consideration submitting that information to ClinVar.
The global insignificant allele frequency calculated through the 1000 Genomes Task. The small allele at this site is indicated in parentheses and should be different through the allele represented by this VCV file.
The condition with the classification, supplied by the submitter for this submitted (SCV) history. This column also includes the afflicted position and allele origin of individuals observed using this variant.
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Read our rules for calculating the critique position. This column also includes a connection to your submitter’s assertion criteria if presented, and the collection technique.
The amount of variants in ClinVar which have been contained inside of this gene, which has a url to see the listing of variants.
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The amount of variants in ClinVar for this gene, such as smaller variants in the gene and larger CNVs that overlap or absolutely have the gene.
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Stars signify the critique position, or the extent of critique supporting the submitted (SCV) report. This price is calculated by NCBI based on knowledge with the submitter.