PRNP M129V - GET-Evidence

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

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Curation:
Currentness:

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PRNP M129V

(PRNP Met129Val)


You are viewing an old version of this page that was saved on October 14, 2010 at 11:05pm by Kimberly Robasky.

Short summary

 

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

Impact

Insufficiently evaluated benign

(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

  • G @ chr20:4680251: 34.0% (3653/10758) in EVS
  • G @ chr20:4628250: 24.2% (31/128) in GET-Evidence
  • Frequency shown in summary reports: 34.0% (3653/10758)

Publications
 

Edited in this revision:

Mead S, Poulter M, Uphill J, Beck J, Whitfield J, Webb TE, Campbell T, Adamson G, Deriziotis P, Tabrizi SJ, Hummerich H, Verzilli C, Alpers MP, Whittaker JC, Collinge J. Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study. Lancet Neurol. 2009 Jan;8(1):57-66. PubMed PMID: 19081515; PubMed Central PMCID: PMC2643048.

Heterozygous version of this variant has been shown to be protective against kuru by, it is theorized, extending incubation time. In general, this GWAS study “confirms the strong association of PRNP codon 129 (rs1799990) across acquired and sporadic prion diseases as the outstanding genetic risk factor in human prion disease”.

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr20:4680251

 

NA12878

 

NA18507

 

NA18517

 

snp-26

 

snp-28

 

snp-29

 

snp-30

 

snp-5

 

Other external references
 

    dbSNP
  • rs1799990
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the PRNP gene
    Familial Creutzfeldt-Jakob Disease
    Fatal Familial Insomnia
    Genetic Prion Diseases
    Gerstmann-Straussler-Scheinker Disease
    Huntington Disease-Like 1
    5-Oxoprolinuria
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PRNP
    GWAS
  • Creutzfeldt-Jakob disease (rs1799990-A)
    Mead 11-Dec-08 in Lancet Neurol
    OR or beta: NR NR
    p-value: 2.00E-21
    Initial sample: 117 CJD cases, 3,083 controls
    Replication sample: 506 sCJD cases, 28 iCJD cases, 151 Kuru cases, 125 Kuru-resistant cases, up to 1,137 controls
    www.ncbi.nlm.nih.gov/pubmed/19081515
    PharmGKB
  • [Creutzfeldt-Jakob Syndrome]
    GWAS results: Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study. (Initial Sample Size: 117 CJD cases, 3,083 controls; Replication Sample Size: 506 sCJD cases, 28 iCJD cases, 151 Kuru cases, 125 Kuru-resistant cases, up to 1,137 controls); (Region: 20p13; Reported Gene(s): PRNP; Risk Allele: rs1799990-A); (p-value= 2E-21).This variant is associated with Creutzfeldt-Jakob disease.
    www.ncbi.nlm.nih.gov/pubmed/19081515; Web Resource:http://www.genome.gov/gwastudie
    PolyPhen-2
  • Score: 0.628 (possibly damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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