ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively prevalent cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to predict the outcome of sequence changes on RNA splicing counsel that this variant may well create or improve a splice site. In summary, the accessible evidence is presently inadequate to determine the purpose of this variant in disease. Therefore, it has been categorised as a Variant of Uncertain Significance.
This sequence change influences codon 777 in the GAA mRNA. It's really a 'silent' adjust, 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 sixteen, that's Portion of the consensus splice site for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted from the literature in people impacted with GAA-similar circumstances.
There isn't any practical evidence in ClinVar for this variation. When you have generated purposeful data for this variation, be sure to consider publishing that details to ClinVar.
This column includes additional information supporting the classification, including citations, the touch upon classification, and in depth proof presented as observations of the variant via the submitter.
The affliction to the classification, furnished by the submitter for this submitted (SCV) record. This column also involves the affected standing and allele origin of individuals noticed with this variant.
The combination germline classification for this variant, thr777 usually for the monogenic or Mendelian ailment as inside the ACMG/AMP pointers, or for reaction to your drug. This benefit is calculated by NCBI based on info from submitters. Read through our guidelines for calculating the mixture classification.
There aren't any citations for germline classification of this variant in ClinVar. If you are aware of of citations for this variation, please look at distributing that data to ClinVar.
The number of variants in ClinVar that are contained within just this gene, using a hyperlink to view the listing of variants.
These citations are identified by LitVar using the rs range, so they may include things like citations for multiple variant at this area. Be sure to assessment the LitVar success very carefully in your variant of interest. Document very last current Might 19, 2024
Aberrant 5' splice sites in human disease genes: mutation sample, nucleotide composition and comparison of computational instruments that predict their utilization.
Stars signify the combination overview status, or the extent of overview supporting the aggregate germline classification for this VCV report.
The amount of variants in ClinVar for this gene, including more compact variants within the gene and larger CNVs that overlap or thoroughly have the gene.
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