The outcome with the variant on RNA or protein purpose, based upon experimental evidence from submitters.
This sequence improve influences codon 777 of the GAA mRNA. It is just a 'silent' modify, this means that it does not alter the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which can be A part of the consensus splice web-site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted from the literature in people impacted with GAA-linked circumstances.
This date represents the final time this VCV report was current. The update could be as a consequence of an update to one of many involved submitted documents (SCVs), or due to an update that ClinVar created on the variant for instance introducing HGVS expressions or a rs quantity.
The worldwide insignificant allele frequency calculated because of the one thousand Genomes Undertaking. The minor allele at this location is indicated in parentheses and could be unique through the allele represented by this VCV document.
The situation for that classification, provided by the submitter for this submitted (SCV) history. This column also contains the afflicted status and allele origin of individuals noticed with this variant.
The aggregate germline classification for this variant, generally for just a monogenic or Mendelian disorder as within the ACMG/AMP tips, or for response into a drug. This price is calculated by NCBI based upon details from submitters. Read our guidelines for calculating the aggregate classification.
There are no citations for germline classification of the variant in ClinVar. If you know of citations for this variation, please consider publishing that information and facts to ClinVar.
The quantity of variants in ClinVar which can be contained in just this gene, thr777 that has a website link to see the listing of variants.
These citations are identified by LitVar using the rs selection, so they may include things like citations for more than one variant at this spot. Be sure to assessment the LitVar success very carefully in your variant of interest. Document very last current Might 19, 2024
The website is secure. The https:// makes sure that you'll be connecting into the Formal Site Which any information and facts you provide is encrypted and transmitted securely.
Stars represent the combination assessment status, or the extent of assessment supporting the combination germline classification for this VCV report.
The site is safe. The https:// makes sure that you're connecting to your official Web site and that any information and facts you offer is encrypted and transmitted securely.
The location is protected. The https:// ensures you are connecting into the Formal website and that any details you present is encrypted and transmitted securely.
The location is secure. The https:// ensures that you'll be connecting to your official website Which any details you offer is encrypted and transmitted securely.