thr777 Secrets
thr777 Secrets
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ClinVar contains 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 adjustments on RNA splicing propose that this variant could generate or bolster a splice web-site. In summary, the readily available proof is at this time insufficient to determine the function of the variant in sickness. Hence, it's been categorized being a Variant of Uncertain Importance.
This sequence modify has an effect on codon 777 on the GAA mRNA. It's a 'silent' transform, that means that it doesn't change the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon 16, which is Component of the consensus splice web site for this exon. This variant is existing in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented during the literature in folks afflicted with GAA-related problems.
There's no practical evidence in ClinVar for this variation. For those who have generated functional data for this variation, please consider publishing that details to ClinVar.
The worldwide slight allele frequency calculated through the 1000 Genomes Challenge. The insignificant allele at this site is indicated in parentheses and will be various from the allele represented by this VCV history.
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There isn't any citations for germline classification of the variant in ClinVar. If you already know of citations for this variation, be sure to take into consideration publishing that facts to ClinVar.
The publishing organization for this submitted (SCV) report. This column also incorporates the SCV accession and Edition quantity, the day this SCV 1st appeared in ClinVar, plus the day this SCV was last current in ClinVar.
These citations are determined by LitVar using the rs selection, so they may contain citations for multiple variant at this spot. Be sure to critique the LitVar effects meticulously on your variant of desire. File very last current May perhaps 19, 2024
Aberrant five' splice sites in human illness genes: mutation pattern, nucleotide composition and comparison of computational instruments that forecast their utilization.
Stars characterize the combination critique standing, or the extent of critique supporting the aggregate germline classification for this VCV record.
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