ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively popular reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to forecast the effect of sequence variations on RNA splicing propose this variant might create or bolster a splice internet site. In summary, the available evidence is presently inadequate to determine the part of the variant in disorder. Consequently, it's been categorized like a Variant of Unsure Significance.
This sequence change affects codon 777 on the GAA mRNA. It's a 'silent' improve, meaning that it doesn't alter the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon 16, that is A part of the consensus splice internet site for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported in the literature in folks affected with GAA-similar ailments.
There is absolutely no functional proof in ClinVar for this variation. When you have created practical data for this variation, make sure you think about publishing that info to ClinVar.
The worldwide insignificant allele frequency calculated from the one thousand Genomes Job. The small allele at this locale is indicated in parentheses and will be diverse from the allele represented by this VCV history.
The affliction for that classification, provided by the submitter for this submitted (SCV) document. This column also contains the impacted standing and allele origin of individuals noticed with this variant.
The thr777 combination germline classification for this variant, usually for just a monogenic or Mendelian condition as while in the ACMG/AMP suggestions, or for reaction into a drug. This benefit is calculated by NCBI based upon data from submitters. Read our principles for calculating the mixture classification.
Browse our procedures for calculating the critique position. This column also features a website link on the submitter’s assertion standards if supplied, and the gathering system.
The publishing Business for this submitted (SCV) history. This column also incorporates the SCV accession and version selection, the date this SCV to start with appeared in ClinVar, along with the day this SCV was past up-to-date in ClinVar.
These citations are identified by LitVar utilizing the rs quantity, so They might include things like citations for multiple variant at this location. You should review the LitVar benefits diligently to your variant of desire. History last up to date May possibly 19, 2024
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Stars symbolize the aggregate critique standing, or the extent of overview supporting the aggregate germline classification for this VCV document.
The number of variants in ClinVar for this gene, together with more compact variants throughout the gene and larger CNVs that overlap or thoroughly include the gene.
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Stars depict the critique standing, or the level of review supporting the submitted (SCV) record. This benefit is calculated by NCBI dependant on details with the submitter.