GRN R493X - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

GRN R493X

(GRN Arg493Stop)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr17:42429772: 0.0% (1/10758) in EVS
  • Frequency shown in summary reports: 0.0% (1/10758)

Publications
 

Genomes
 

Other external references
 

    Web search results (29 hits -- see all)
  • Plasma progranulin levels predict progranulin mutation status ...
    All GRN mutations identified thus far cause disease through a uniform disease ... on the most common GRN mutation worldwide, p.R493X, 10% of the mutation carriers ...
    brain.oxfordjournals.org/cgi/content/full/132/3/583
  • BRAIN
    GRN mutation status and could be used as a biological marker, we optimized a GRN ELISA and studied ... NGR043 and NGR068 carrying p.R493X had previously been ...
    brain.oxfordjournals.org/cgi/reprint/132/3/583.pdf
  • Variations in the progranulin gene affect global gene ...
    ... samples with mutations or possibly pathogenic variations in the GRN gene (GRN ... Most of the GRN mutations found thus far result in premature termination (8–10) ...
    hmg.oxfordjournals.org/cgi/content/full/17/10/1349
  • OMIM: 138945
    Le Ber et al. (2007) stated that 31 GRN mutations had been identified in patients worldwide. ... in the GRN gene, resulting in an arg493-to-ter (R493X) substitution. ...
    www.genome.jp/dbget-bin/www_bget?omim+138945
  • Clinical, Genetic, and Pathologic Characteristics of Patients ...
    mentia, including 9 with GRN mutations (4 autopsy cases ... Patients with and without a GRN mutation have. similar demographic features, although ...
    archneur.ama-assn.org/cgi/reprint/64/8/1148.pdf
  • Common variants at 7p21 are associated with frontotemporal ...
    Carriers of the GRN mutation had significantly higher levels of TMEM106B expression ... of the C1477T (R493X) mutation in GRN, representing ~20% of mutation ...
    www.nature.com/ng/journal/v42/n3/abs/ng.536.html
  • Van Deerlin VM. Common variants at 7p21 are associated with ...
    Carriers of the GRN mutation had significantly higher levels of TMEM106B expression ... of the C1477T (R493X) mutation in GRN, representing ~20% of mutation ...
    pubget.com/paper/20154673?title=Common+...+TDP-43+inclusions
  • AD&FTD Mutation Database
    GRN Arg493X Mutation Details (Table Legend) Gene. GRN. Name. g.3240C>T ... p.R493X. Region. EX12. CDS. GranD. Phenotype. Frontotemporal Dementia / Primary Progressive ...
    molgen.ua.ac.be/ADMutations/Default.cfm?MT=1&ML=0&...&ID=297
  • Frequency and clinical characteristics of progranulin ...
    Three patients shared exon 11 R493X stop codon mutation. Four patients shared exon 10 ... GRN protein, human. Intercellular Signaling Peptides and Proteins. tau ...
    www.ncbi.nlm.nih.gov/pubmed/18192287
  • PowerPoint Presentation
    PGRN p.R493X ~ 90% at 70 years ~ 50% at 60 years. p.R493X. All PGRN mutations. Age-dependent ... GRN. HIGH ELASTASE. LOW ELASTASE. PGRN. FTLD-U (including PGRN cases) ...
    www.alz.washington.edu/NONMEMBER/FALL07/hutton.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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