The result on the variant on RNA or protein operate, based upon experimental evidence from submitters.
This sequence transform impacts codon 777 with the GAA mRNA. It is just a 'silent' improve, which means that it does not alter the encoded amino acid sequence on the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which can be Section 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 people today afflicted with GAA-connected circumstances.
There is not any purposeful proof in ClinVar for this variation. When you've got created purposeful details for this variation, remember to look at publishing that facts to ClinVar.
This column includes more info supporting the classification, including citations, the comment on classification, and detailed proof offered as observations of your variant by the submitter.
The problem for your classification, furnished by the submitter for this submitted (SCV) history. This column also features the afflicted standing and allele origin of individuals noticed with this variant.
The combination germline thr777 classification for this variant, typically for any monogenic or Mendelian dysfunction as during the ACMG/AMP recommendations, or for response to some drug. This benefit is calculated by NCBI according to info from submitters. Read through our regulations for calculating the mixture classification.
Study our guidelines for calculating the review position. This column also features a website link for the submitter’s assertion conditions if offered, and the collection approach.
The publishing Business for this submitted (SCV) history. This column also involves the SCV accession and version selection, the day this SCV very first appeared in ClinVar, and the date this SCV was final up-to-date in ClinVar.
These citations are recognized by LitVar utilizing the rs range, so they may include things like citations for multiple variant at this location. You should review the LitVar results meticulously for your variant of desire. Report past updated May possibly 19, 2024
Aberrant five' splice sites in human disease genes: mutation sample, nucleotide structure and comparison of computational tools that forecast their utilization.
Stars signify the aggregate critique position, or the extent of review supporting the mixture germline classification for this VCV history.
The number of variants in ClinVar for this gene, like scaled-down variants in the gene and larger CNVs that overlap or completely have the gene.
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