ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively typical reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the impact of sequence alterations on RNA splicing counsel this variant could build or strengthen a splice website. In summary, the offered evidence is at present insufficient to ascertain the function of the variant in disease. Hence, it has been labeled to be a Variant of Unsure Importance.
This sequence improve influences codon 777 from the GAA mRNA. It's really a 'silent' modify, meaning that it does not alter the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which is Portion of the consensus splice web page for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been described while in the literature in men and women impacted with GAA-linked conditions.
This day signifies the final time this VCV record was up to date. The update may very well be resulting from an update to among the incorporated submitted data (SCVs), or as a consequence of an update that ClinVar produced for the variant for instance introducing HGVS expressions or simply a rs number.
This column incorporates more details supporting the classification, together with citations, the touch upon classification, and detailed evidence delivered as observations of your variant through the submitter.
The ailment for that classification, provided by the submitter for this submitted (SCV) report. This column also contains the afflicted status and allele origin of people noticed with this particular variant.
The combination germline classification for this variant, usually for the monogenic or Mendelian dysfunction as in the ACMG/AMP recommendations, or for reaction to your drug. This value is calculated by NCBI depending on info from submitters. Examine our procedures for calculating the combination classification.
Study our guidelines for calculating the evaluation position. This column also includes a website link towards the submitter’s assertion criteria if delivered, and the gathering approach.
The number of variants in ClinVar that are contained inside this gene, using a hyperlink to perspective the list of variants.
These citations are discovered by LitVar using the rs variety, so they may contain citations for multiple variant at this location. You should review the LitVar results thoroughly for the variant of curiosity. Report very last up to date May possibly 19, 2024
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Stars symbolize the aggregate assessment status, or the extent of assessment supporting the mixture germline classification for this VCV document.
The volume of variants in ClinVar for this gene, like smaller variants in the gene and bigger CNVs that thr777 overlap or completely contain the gene.
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