ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively frequent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the result of sequence modifications on RNA splicing suggest that this variant might develop or bolster a splice web-site. In summary, the available proof is now inadequate to determine the purpose of the variant in ailment. For that reason, it has been classified as a Variant of Unsure Significance.
This sequence transform impacts codon 777 of your GAA mRNA. This is a 'silent' change, indicating that it does not change the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon 16, which is Element 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 in the literature in men and women afflicted with GAA-associated problems.
This day signifies the final time this VCV document was up to date. The update may very well be as a result of an update to on the list of integrated submitted information (SCVs), or on account of an update that ClinVar built to the variant like including HGVS expressions or even a rs variety.
This column features additional information supporting the classification, which includes citations, the touch upon classification, and thorough evidence furnished as observations on the variant from the submitter.
The ailment to the classification, provided by the submitter for this submitted (SCV) file. This column also consists of the influenced status and allele origin of individuals noticed with this variant.
The mixture germline classification for this variant, generally to get a monogenic or Mendelian problem as within the ACMG/AMP tips, or for reaction to your drug. This price is calculated by NCBI dependant on data from submitters. Study our principles for calculating the aggregate classification.
Read our rules for calculating the review position. This column also includes a hyperlink to the submitter’s assertion conditions if furnished, and the collection method.
The publishing Firm for this submitted (SCV) record. This column also incorporates the SCV accession and Edition selection, the date this SCV to start with appeared in ClinVar, along with the day that this SCV was very last updated in ClinVar.
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Aberrant five' splice web-sites in human disorder genes: mutation pattern, nucleotide construction and comparison of computational resources that predict their utilization.
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