ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively frequent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the impact of sequence improvements on RNA splicing counsel this variant may produce or reinforce a splice internet site. In summary, the out there proof is now inadequate to find out the part of this variant in disease. Therefore, it's been labeled being a Variant of Uncertain Importance.

This sequence improve influences codon 777 of the GAA mRNA. It is just a 'silent' alter, this means that it does not 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 Section of the consensus splice website for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been described inside the literature in people today affected with GAA-relevant disorders.

This date signifies the final time this VCV file was up-to-date. The update may be as a consequence of an update to among the incorporated submitted data (SCVs), or as a consequence of an update that ClinVar produced for the variant for example incorporating HGVS expressions or simply a rs number.

This column contains more information supporting the classification, together with citations, the comment on classification, and comprehensive proof supplied as observations of your variant because of the submitter.

The issue for the classification, supplied by the submitter for this submitted (SCV) file. This column also consists of the influenced position and allele origin of people noticed with this variant.

The mixture germline classification for this variant, commonly for a monogenic or Mendelian condition as in the ACMG/AMP suggestions, or for response into a drug. This benefit is calculated by NCBI according to info from submitters. Read through our regulations for calculating the mixture classification.

There are no citations for germline classification of the variant in ClinVar. If you recognize of citations for this variation, please consider distributing that data to ClinVar.

The number of variants in ClinVar that are contained within just this gene, by using a url to watch the list of variants.

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Aberrant 5' splice internet sites in human ailment genes: mutation pattern, nucleotide structure and comparison of computational tools that forecast their utilization.

Stars represent the mixture assessment status, or the extent of assessment supporting the combination germline classification for this VCV record.

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