ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively frequent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the result of sequence changes on RNA splicing recommend that this variant might develop or reinforce a splice internet site. In summary, the out there evidence is presently insufficient to ascertain the job of this variant in disorder. Thus, it's been categorized as being a Variant of Unsure Importance.
This sequence transform impacts codon 777 with the GAA mRNA. This is a 'silent' change, that means that it does not change the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that is part of the consensus splice internet site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported while in the literature in individuals impacted with GAA-similar circumstances.
There is absolutely no useful evidence in ClinVar for this variation. When you have generated functional data for this variation, please consider publishing that facts to ClinVar.
This column incorporates more details supporting the classification, such as citations, the touch upon classification, and in thr777 depth proof presented as observations from the variant by the submitter.
The affliction for your classification, furnished by the submitter for this submitted (SCV) document. This column also features the impacted position and allele origin of people observed using this type of variant.
The aggregate germline classification for this variant, typically for your monogenic or Mendelian condition as during the ACMG/AMP recommendations, or for response to a drug. This worth is calculated by NCBI dependant on information from submitters. Examine our regulations for calculating the mixture classification.
There won't be any citations for germline classification of this variant in ClinVar. If you recognize of citations for this variation, you should take into account distributing that data to ClinVar.
The quantity of variants in ClinVar which can be contained inside this gene, with a backlink to look at the listing of variants.
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Aberrant 5' splice sites in human sickness genes: mutation pattern, nucleotide framework and comparison of computational tools that predict their utilization.
Stars characterize the mixture overview status, or the extent of review supporting the aggregate germline classification for this VCV file.
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Stars depict the assessment status, or the level of evaluate supporting the submitted (SCV) record. This benefit is calculated by NCBI based upon facts with the submitter.