ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively widespread explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to predict the outcome of sequence changes on RNA splicing propose this variant might build or bolster a splice site. In summary, the available evidence is now insufficient to ascertain the function of this variant in sickness. Consequently, it has been categorised like a Variant of Uncertain Importance.
This sequence improve impacts codon 777 with the GAA mRNA. It is just a 'silent' transform, this means that it does not change the encoded amino acid sequence from the GAA protein. This variant also falls at the last nucleotide of exon 16, which can be A part of the consensus splice internet site for this exon. This variant is present in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been claimed in the literature in folks afflicted with GAA-related disorders.
There isn't a purposeful proof in ClinVar for this variation. When you've got created functional knowledge for this variation, make sure you take into account publishing that knowledge to ClinVar.
This column consists of additional information supporting the classification, like citations, the touch upon classification, and thorough proof offered as observations of your variant through the submitter.
The affliction for your classification, supplied by the submitter for this submitted (SCV) record. This column also consists of the affected status and allele origin of people noticed with this variant.
The combination germline classification for this variant, typically for a monogenic or Mendelian ailment as in the ACMG/AMP rules, or for response to your drug. This worth is calculated by NCBI dependant on knowledge from submitters. Go through our regulations for calculating the aggregate classification.
Browse our procedures for calculating the evaluate position. This column also includes a hyperlink towards the submitter’s assertion requirements if supplied, and the gathering process.
The volume of variants in ClinVar that are contained in just this gene, that has a link to check out the list of variants.
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Stars represent the combination overview status, or the extent of assessment supporting the aggregate germline classification for this VCV history.
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