ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a relatively typical explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the impact of sequence variations on RNA splicing propose that this variant may perhaps develop or improve a splice site. In summary, the readily available proof is currently insufficient to determine the part of the variant in sickness. For that reason, it has been categorized like a Variant of Unsure Significance.
This sequence change influences codon 777 from the GAA mRNA. It is just a 'silent' transform, which means that it doesn't alter the encoded amino acid sequence in the GAA protein. This variant also falls at the last nucleotide of exon 16, which happens to be Component of the consensus splice website for this exon. This variant is existing in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been claimed inside the literature in persons influenced with GAA-linked conditions.
This date represents the last time this VCV record was updated. The update could be as a consequence of an update to one of several integrated submitted records (SCVs), or as a consequence of an update that ClinVar produced to the variant such as including HGVS expressions or even a rs selection.
This column includes more information supporting the classification, including citations, the touch upon classification, and thorough proof offered as observations from the variant by the submitter.
The condition for the classification, supplied by the submitter for this submitted (SCV) history. This column also involves the influenced position and allele origin of individuals observed using this type of variant.
The combination germline classification for this variant, usually to get a monogenic or Mendelian problem as during the ACMG/AMP guidelines, or for reaction to your drug. This worth is calculated by NCBI depending on info from submitters. Study our policies for calculating the aggregate classification.
Go through our procedures for calculating the overview position. This column also features a hyperlink into the submitter’s assertion requirements if furnished, and the collection process.
The amount of variants in ClinVar which have been contained inside of this gene, that has a link to see the list of variants.
These citations are recognized by LitVar utilizing the rs variety, so they may include citations for more than one variant at this locale. You should assessment the LitVar effects carefully for your variant of curiosity. History previous current Could 19, 2024
Aberrant five' splice web sites in human ailment genes: mutation pattern, nucleotide structure and comparison of computational applications that predict their utilization.
Stars signify the mixture review status, or the level of review supporting the aggregate germline classification for this VCV file.
The number of variants in ClinVar for this gene, like more compact variants in the gene and larger CNVs that overlap or completely have the gene.
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Stars represent the evaluation status, or the extent of evaluate supporting the submitted (SCV) history. This price is calculated by NCBI dependant on data in the submitter.