ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively frequent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the influence of sequence changes on RNA splicing recommend that this variant might generate or bolster a splice web-site. In summary, the obtainable evidence is presently insufficient to ascertain the purpose of the variant in condition. As a result, it has been categorised to be a Variant of Unsure Significance.
This sequence improve impacts codon 777 of the GAA mRNA. It's really a 'silent' change, indicating 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 Element of the consensus splice internet site for this exon. This variant is existing in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted during the literature in folks influenced with GAA-related situations.
This day signifies the final time this VCV record was up to date. The update can be as a result of an update to on the list of included submitted information (SCVs), or on account of an update that ClinVar built to the variant like including HGVS expressions or possibly a rs variety.
This column contains more information supporting the classification, including citations, the touch upon classification, and comprehensive proof offered as observations of the variant via the submitter.
The issue 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 variant.
The mixture germline classification for this variant, commonly for a monogenic or Mendelian condition as inside the ACMG/AMP pointers, or for reaction to your drug. This worth is calculated by NCBI depending on data from submitters. Study our principles for calculating the aggregate classification.
There aren't any citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, remember to contemplate distributing that details to ClinVar.
The amount of variants in ClinVar which are contained within this gene, that has a url to see the listing of variants.
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Aberrant five' splice web-sites in human disorder genes: mutation pattern, nucleotide construction and comparison of computational resources that forecast their utilization.
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The number of variants in ClinVar for this gene, which include smaller sized variants throughout the gene and larger CNVs that overlap or entirely include the gene.
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Stars signify the assessment status, or the extent of critique supporting the submitted (SCV) report. This worth is calculated by NCBI depending on info in the submitter.