ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a comparatively popular cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the outcome of sequence adjustments on RNA splicing propose that this variant may possibly make or strengthen a splice website. In summary, the readily available proof is at the moment insufficient to determine the function of the variant in sickness. Hence, it's been categorised to be a Variant of Uncertain Significance.
This sequence alter has an effect on codon 777 in the GAA mRNA. It is a 'silent' change, that means that it doesn't change the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon 16, which happens to be Component of the consensus splice web site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented during the literature in folks influenced with GAA-similar situations.
There isn't a purposeful proof in ClinVar for this variation. In case you have produced functional details for this variation, be sure to consider publishing that details to ClinVar.
This column involves more details supporting the classification, including citations, the comment on classification, and in-depth evidence provided as observations with the variant through the submitter.
The situation for that classification, provided by the submitter for this submitted (SCV) report. This column also contains the afflicted status and allele origin of individuals noticed with this variant.
The combination germline classification for this variant, typically to get a monogenic or Mendelian problem as from the ACMG/AMP rules, or for reaction to the drug. This worth is calculated by NCBI based upon details from submitters. Browse our principles for calculating the mixture classification.
There are no citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, please consider publishing that information and facts to ClinVar.
The thr777 quantity of variants in ClinVar which are contained within this gene, which has a backlink to perspective the listing of variants.
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The quantity of variants in ClinVar for this gene, which include scaled-down variants inside the gene and bigger CNVs that overlap or fully consist of the gene.
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