WRN C1367R - GET-Evidence

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

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Curation:
Currentness:

WRN C1367R

(WRN Cys1367Arg)


Short summary

 

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

Impact

Insufficiently evaluated not reviewed

(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

  • C @ chr8:31024654: 22.9% (2467/10758) in EVS
  • C @ chr8:31144195: 18.0% (23/128) in GET-Evidence
  • Frequency shown in summary reports: 22.9% (2467/10758)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr8:31024654

 

 

 

 

 

 

 

 

 

 

 

 

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het C @ chr8:31024654

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom C @ chr8:31024654

 

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr8:31024654

 

 

GS06985 - var-GS06985-1100-36-ASM
hom C @ chr8:31144196

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr8:31144196

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr8:31144196

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr8:31144196

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr8:31144196

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr8:31144196

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr8:31144196

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr8:31144196

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr8:31144196

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr8:31144196

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr8:31144196

 

Other external references
 

    dbSNP
  • rs1346044
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (43 hits -- see all)
  • WRN polymorphisms affect expression levels of plasminogen ...
    WRN polymorphisms affect expression levels of plasminogen activator ... WRN C1367R and L1074F polymorphisms were determined by automatic sequencing in primary ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2292137/?tool=pmcentrez
  • Colorectal Cancer and Polymorphisms in DNA Repair Genes WRN ...
    Colorectal Cancer and Polymorphisms in DNA Repair Genes WRN, RMI1, and BLM ... WRN V114I (rs2230009), WRN L1074F (rs2725362), WRN C1367R (rs1346044) ...
    carcin.oxfordjournals.org/cgi/content/short/bgp293v1
  • BioMed Central | Full text | WRN polymorphisms affect ...
    WRN polymorphisms affect expression levels of plasminogen activator ... WRN C1367R and L1074F polymorphisms were determined by automatic sequencing in primary ...
    www.biomedcentral.com/1471-2261/8/5
  • Mechanisms of RecQ helicases in pathways of DNA metabolism ...
    In addition to WRN, BLM and RECQ4, the two other human RecQ helicases are RECQ1 ... a recombinant human WRN protein fragment indicated that the WRN RQC region also ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1559444
  • BMC Cardiovascular Disorders
    Background: Recessive mutations in WRN gene eliminate WRN protein function (helicase) and ... C1367R WRN and for F1074L WRN (1367CR/1074FL. genotype) were ...
    www.biomedcentral.com/content/pdf/1471-2261-8-5.pdf
  • Gastronet - Aggiornamenti in... - Dettaglio
    Colorectal Cancer and Polymorphisms in DNA Repair Genes WRN, RMI1, and BLM. ... genotyping WRN V114I (rs2230009), WRN L1074F (rs2725362), WRN C1367R (rs1346044), RMI1 ...
    gastronet.it/scientifico/aggiornamenti/dett.html?...&data=13
  • The Werner syndrome protein: an update
    WRN was originally identified as a gene responsible for ... helicases WRN, BLM and RecQ4 genes have been shown. to be responsible for the autosomal ...
    usc.edu/schools/medicine/departments/.../WRN/5review.pdf
  • Mutation Database
    The Figure above summarizes WRN mutations found in Werner syndrome patients, ... and on molecular screening for WRN mutations in suspected Werner syndrome ...
    www.pathology.washington.edu/research/werner/database
  • Brazilian Journal of Medical and Biological Research ...
    Some specific WRN polymorphic variants were associated with increased risk for ... Specific WRN polymorphisms have been studied to understand the impact of ...
    scielo.br/scielo.php?script=sci_arttext&...
  • Cancer & Oncology RSS News Page 4
    Deficiencies in genes encoding the RecQ helicases WRN and BLM lead to rare autosomal recessive diseases, ... WRN V114I (rs2230009), WRN L1074F (rs2725362), WRN C1367R (rs1346044) ...
    www.medworm.com/rss/index.php/Cancer-&-Oncology/6/?page=4

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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