WRN L1074F - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

WRN L1074F

(WRN Leu1074Phe)


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

  • T @ chr8:30999280: 46.6% (5017/10758) in EVS
  • T @ chr8:31118821: 52.3% (67/128) in GET-Evidence
  • Frequency shown in summary reports: 46.6% (5017/10758)

Publications
 

Genomes
 

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom T @ chr8:30999280

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr8:30999280

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom T @ chr8:30999280

 

 

 

 

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom T @ chr8:30999280

 

 

 

 

 

 

 

 

 

 

 

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr8:30999280

 

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr8:30999280

 

 

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr8:31118822

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr8:31118822

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr8:31118822

 

GS18501 - var-GS18501-1100-36-ASM
hom T @ chr8:31118822

 

GS18504 - var-GS18504-1100-36-ASM
hom T @ chr8:31118822

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr8:31118822

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr8:31118822

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr8:31118822

 

GS18537 - var-GS18537-1100-36-ASM
hom T @ chr8:31118822

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr8:31118822

 

GS18940 - var-GS18940-1100-36-ASM
hom T @ chr8:31118822

 

GS18942 - var-GS18942-1100-36-ASM
hom T @ chr8:31118822

 

GS18947 - var-GS18947-1100-36-ASM
hom T @ chr8:31118822

 

GS18956 - var-GS18956-1100-36-ASM
hom T @ chr8:31118822

 

GS19017 - var-GS19017-1100-36-ASM
hom T @ chr8:31118822

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr8:31118822

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr8:31118822

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr8:31118822

 

GS19238 - var-GS19238-1100-36-ASM
het T @ chr8:31118822

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr8:31118822

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr8:31118822

 

GS19648 - var-GS19648-1100-36-ASM
hom T @ chr8:31118822

 

GS19649 - var-GS19649-1100-36-ASM
hom T @ chr8:31118822

 

GS19669 - var-GS19669-1100-36-ASM
hom T @ chr8:31118822

 

GS19700 - var-GS19700-1100-36-ASM
hom T @ chr8:31118822

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr8:31118822

 

GS19735 - var-GS19735-1100-36-ASM
hom T @ chr8:31118822

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr8:31118822

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr8:31118822

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr8:31118822

 

GS21767 - var-GS21767-1100-36-ASM
hom T @ chr8:31118822

 

NA12878

 

Other external references
 

    dbSNP
  • rs1801195
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (21 hits -- see all)
  • Colorectal Cancer and Polymorphisms in DNA Repair Genes WRN ...
    Colorectal Cancer and Polymorphisms in DNA Repair Genes WRN, RMI1, and BLM ... genotyping WRN V114I (rs2230009), WRN L1074F (rs2725362), WRN C1367R ...
    carcin.oxfordjournals.org/cgi/content/short/bgp293v1
  • BioMed Central | Full text | WRN polymorphisms affect ...
    WRN polymorphisms affect expression levels of plasminogen activator inhibitor type 1 in ... WRN C1367R and L1074F polymorphisms were determined by automatic ...
    www.biomedcentral.com/1471-2261/8/5
  • WRN polymorphisms affect expression levels of plasminogen ...
    WRN polymorphisms affect expression levels of plasminogen activator inhibitor type 1 in ... WRN C1367R and L1074F polymorphisms were determined by automatic ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2292137/?tool=pmcentrez
  • 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 ...
    gastronet.it/scientifico/aggiornamenti/dett.html?...&data=13
  • WRN polymorphisms affect expression levels of plasminogen ...
    Recessive mutations in WRN gene eliminate WRN protein function (helicase) and cause Werner syndrome. ... WRN C1367R and L1074F polymorphisms were determined by automatic ...
    www.biomedcentral.com/content/download/xml/1471-2261-8-5.xml
  • AceView: Gene:WRN, a comprehensive annotation of human, mouse ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=WRN
  • 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
  • Cancer & Oncology RSS News Page 4
    Deficiencies in genes encoding the RecQ helicases WRN and BLM lead to rare autosomal recessive diseases, ... genotyping WRN V114I (rs2230009), WRN L1074F (rs2725362), WRN C1367R ...
    www.medworm.com/rss/index.php/Cancer-&-Oncology/6/?page=4
  • Mutation 079
    Protein notation: p.L1074F. Location: exon 26. Allelic status: n/a. Mutation synonyms. LSMD ... Department of Pathology, University of Washington. Seattle, WA 98195 ...
    pathology.washington.edu/research/.../wrn/mut_079.html
  • P1
    Background: The anticarcinogenic and antioxidant prop- erties of vitamins and of trace ... Objectives: To examine the levels of antioxidant vitamins ...
    www.actabp.pl/pdf/Supl5_07/Posters.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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