NOS3 D298E - GET-Evidence

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

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NOS3 D298E

(NOS3 Asp298Glu)


You are viewing an old version of this page that was saved on March 5, 2012 at 2:42pm by Genome Importing Robot.

Short summary

 

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

Impact

Insufficiently evaluated pharmacogenetic

(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 @ chr7:150696111: 74.9% (8047/10742) in EVS
  • G @ chr7:150327043: 79.7% (102/128) in GET-Evidence
  • Frequency shown in summary reports: 74.9% (8047/10742)

Publications
 

Choi JY, Barlow WE, Albain KS, Hong CC, Blanco JG, Livingston RB, Davis W, Rae JM, Yeh IT, Hutchins LF, Ravdin PM, Martino S, Lyss AP, Osborne CK, Abeloff MD, Hayes DF, Ambrosone CB. Nitric oxide synthase variants and disease-free survival among treated and untreated breast cancer patients in a Southwest Oncology Group clinical trial. Clin Cancer Res. 2009 Aug 15;15(16):5258-66. Epub 2009 Aug 11. PubMed PMID: 19671875; PubMed Central PMCID: PMC2745926.

 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr7:150696111

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr7:150696111

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom G @ chr7:150696111

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr7:150696111

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom G @ chr7:150696111

 

Added in this revision:

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom G @ chr7:150696111

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom G @ chr7:150696111

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr7:150696111

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom G @ chr7:150696111

 

GS06985 - var-GS06985-1100-36-ASM
hom G @ chr7:150327044

 

GS06994 - var-GS06994-1100-36-ASM
het G @ chr7:150327044

 

GS07357 - var-GS07357-1100-36-ASM
hom G @ chr7:150327044

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr7:150327044

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr7:150327044

 

GS18501 - var-GS18501-1100-36-ASM
hom G @ chr7:150327044

 

GS18502 - var-GS18502-1100-36-ASM
hom G @ chr7:150327044

 

GS18504 - var-GS18504-1100-36-ASM
het G @ chr7:150327044

 

GS18505 - var-GS18505-1100-36-ASM
het G @ chr7:150327044

 

GS18508 - var-GS18508-1100-36-ASM
hom G @ chr7:150327044

 

GS18517 - var-GS18517-1100-36-ASM
hom G @ chr7:150327044

 

GS18526 - var-GS18526-1100-36-ASM
hom G @ chr7:150327044

 

GS18537 - var-GS18537-1100-36-ASM
hom G @ chr7:150327044

 

GS18555 - var-GS18555-1100-36-ASM
hom G @ chr7:150327044

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr7:150327044

 

GS18940 - var-GS18940-1100-36-ASM
hom G @ chr7:150327044

 

GS18942 - var-GS18942-1100-36-ASM
hom G @ chr7:150327044

 

GS18947 - var-GS18947-1100-36-ASM
hom G @ chr7:150327044

 

GS18956 - var-GS18956-1100-36-ASM
hom G @ chr7:150327044

 

GS19017 - var-GS19017-1100-36-ASM
hom G @ chr7:150327044

 

GS19020 - var-GS19020-1100-36-ASM
hom G @ chr7:150327044

 

GS19025 - var-GS19025-1100-36-ASM
hom G @ chr7:150327044

 

GS19026 - var-GS19026-1100-36-ASM
het G @ chr7:150327044

 

GS19129 - var-GS19129-1100-36-ASM
hom G @ chr7:150327044

 

GS19238 - var-GS19238-1100-36-ASM
hom G @ chr7:150327044

 

GS19239 - var-GS19239-1100-36-ASM
hom G @ chr7:150327044

 

GS19240 - var-GS19240-1100-36-ASM
hom G @ chr7:150327044

 

GS19648 - var-GS19648-1100-36-ASM
het G @ chr7:150327044

 

GS19649 - var-GS19649-1100-36-ASM
het G @ chr7:150327044

 

GS19669 - var-GS19669-1100-36-ASM
hom G @ chr7:150327044

 

GS19670 - var-GS19670-1100-36-ASM
het G @ chr7:150327044

 

GS19700 - var-GS19700-1100-36-ASM
het G @ chr7:150327044

 

GS19701 - var-GS19701-1100-36-ASM
hom G @ chr7:150327044

 

GS19703 - var-GS19703-1100-36-ASM
het G @ chr7:150327044

 

GS19704 - var-GS19704-1100-36-ASM
hom G @ chr7:150327044

 

GS19735 - var-GS19735-1100-36-ASM
het G @ chr7:150327044

 

GS19834 - var-GS19834-1100-36-ASM
hom G @ chr7:150327044

 

GS20502 - var-GS20502-1100-36-ASM
hom G @ chr7:150327044

 

GS20509 - var-GS20509-1100-36-ASM
hom G @ chr7:150327044

 

GS21767 - var-GS21767-1100-36-ASM
hom G @ chr7:150327044

 

Other external references
 

    dbSNP
  • rs1799983
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [cyclophosphamide; doxorubicin; fluorouracil; methotrexate]
    Risk or phenotype-associated allele: T. Phenotype: Women assigned to chemotherapy who had NOS3 −786 CC and 894 TT genotypes had an increased risk of recurrence compared with those with common alleles. Study size: 1153. Study population/ethnicity: Women with Breast Neoplasms receiving CMF (cyclophosphamide, methotrexate and fluorouracil) or CAF (cyclophosphamide, doxorubicin and fluorouracil) adjuvant therapy. Significance metric(s): HR = 2.32 (95% CI, 1.26-4.25); p = 0.008. Type of association: CO.
    www.ncbi.nlm.nih.gov/pubmed/19671875
    Web search results (9 hits -- see all)
  • AceView: Gene:NOS3, a comprehensive annotation of human ...
    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=NOS3
  • SNPs Identified in NOS3
    D298E. T/G. G9847a2. chr7:150089473. Intronic. view. G/A. WIPGA_03_805. chr7:150089974. Intronic ... Candidate Gene List > NOS3 Main Page > SNPs Identified in NOS3 ...
    cardiogenomics.med.harvard.edu/.../NOS3_validated_SNPs.html
  • Physiogenomic analysis links serum creatine kinase activities ...
    oxide synthase 3 (NOS3), physiogenomics, side effects, single ... angiotensin II Type 1 receptor (AGTR1) and nitric oxide synthase 3 (NOS3) genes ...
    illuminakk.co.jp/pdf/ScientificPapers/...
  • SNP Name
    D298E. NOS3. 7. rs2566514. synonymous. 0.91. NOS3. 7. rs3918232. nonsynonymous. V827M. 0.84. NOS3. 7 ... impairment carrying the T variant of the Glu/Asp NOS3 polymorphism. ...
    biomedcentral.com/.../supplementary/1471-2156-8-43-s1.doc
  • Common Variants in Immune and DNA Repair Genes and Risk for ...
    Division of Cancer Epidemiology and Genetics, National Cancer ... NOS3. Nitric oxide synthase 3 (endothelial cell) 7q36. Ex8–63T3G. IVS1–762C3T. D298E. aka -786 ...
    proyectoguanacaste.org/files/.../WangS.pdf
  • Variant name (amino acid change and position for exonic SNPs)
    NOS3 (Nitric oxide. synthase 3) 7. 4. 0.2. 1.3. Produces nitric oxide (NO) ... rs1799983 (D298E) associated (p=0.005) with log creatine kinase levels in 102 patients ...
    ctsu.ox.ac.uk/~search/SEARCH_myopathy_NEJM2008_supapp.pdf
  • Neuro Oncol -- Rajaraman et al. 10 (5): 709 Table BL1
    Enzyme converts hydrogen peroxide to water and oxygen; high-activity –329C allele ... NOS3. Nitric oxide synthase 3. 7q36. Ex8–63T>G (D298E) rs1799983. Enzyme ...
    neuro-oncology.oxfordjournals.org/cgi/content-nw/.../TBL1
  • Physiogenomic Method for Predicting Statin Injury to Muscle ...
    [0060]Two genes, AGTR1 and NOS3, were found in the association tests ... NOS3 was the second ranking gene in our survey, and also very significantly ...
    www.faqs.org/patents/app/20090233299

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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