GSTM1 K173N - 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.

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Curation:
Currentness:

GSTM1 K173N

(GSTM1 Lys173Asn)


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

  • C @ chr1:110233138: 26.4% (2326/8816) in EVS
  • C @ chr1:110034660: 28.6% (20/70) in GET-Evidence
  • Frequency shown in summary reports: 26.4% (2326/8816)

Publications
 

Moyer AM, Salavaggione OE, Hebbring SJ, Moon I, Hildebrandt MA, Eckloff BW, Schaid DJ, Wieben ED, Weinshilboum RM. Glutathione S-transferase T1 and M1: gene sequence variation and functional genomics. Clin Cancer Res. 2007 Dec 1;13(23):7207-16. PubMed PMID: 18056202.

 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
hom C @ chr1:110233138

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
hom C @ chr1:110233138

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom C @ chr1:110233138

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het C @ chr1:110233138

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
hom C @ chr1:110233138

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom C @ chr1:110233138

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
hom C @ chr1:110233138

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chr1:110233138

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom C @ chr1:110233138

 

GS06985 - var-GS06985-1100-36-ASM
hom C @ chr1:110034661

 

GS12004 - var-GS12004-1100-36-ASM
hom C @ chr1:110034661

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr1:110034661

 

GS18537 - var-GS18537-1100-36-ASM
hom C @ chr1:110034661

 

GS18940 - var-GS18940-1100-36-ASM
hom C @ chr1:110034661

 

GS18942 - var-GS18942-1100-36-ASM
hom C @ chr1:110034661

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr1:110034661

 

GS19735 - var-GS19735-1100-36-ASM
hom C @ chr1:110034661

 

Other external references
 

    dbSNP
  • rs1065411
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs74837985
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (8 hits -- see all)
  • Dietary Phytoestrogen Intake Is Associated with Reduced ...
    Similar articles in this journal. Alert me to new issues of the ... GSTM1-locus deletion; GSTT1-locus deletion; GSTM1 K173N, rs1065411; GSTM3delAGG, ...
    jn.nutrition.org/cgi/content/full/136/12/3046
  • Dietary Phytoestrogen Intake Is Associated with Reduced ...
    Author manuscript; available in PMC 2007 April 10. Published in final ... GSTM1-locus deletion; GSTT1-locus deletion; GSTM1 K173N, rs1065411; GSTM3delAGG, ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1850957/?tool=pubmed
  • Dietary Phytoestrogen Intake Is Associated with Reduced ...
    Division of Preventive Oncology, Cancer Care Ontario, Toronto, Ontario M5G 2L7, ... rs1800440; GSTM1-locus deletion; GSTT1-locus deletion; GSTM1 K173N, rs1065411; ...
    jn.nutrition.org/cgi/reprint/136/12/3046.pdf
  • SNP Name
    5' flanking (more than 2 kb) 0.66. APOD. 3. rs1800557. nonsynonymous. A713V. 0.92. APP. 21 ... K173N. 0.84. GSTM1. 1. rs7483. nonsynonymous. V224I. 0.81. GSTM3. 1. rs560018 ...
    biomedcentral.com/.../supplementary/1471-2156-8-43-s1.doc
  • AceView: Gene:GSTM2andGSTM1, a comprehensive annotation of ...
    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=GSTM1
  • Parkinson Disease Knowledgebase
    GSTM1. Variant (mutation/polymorphism) information mined from ... K173N (Polymorphism) [ VAR_003617 ] K173N (Polymorphism) S210T (Polymorphism) ...
    datam.i2r.a-star.edu.sg/mdpd/detail.php?symbol=GSTM1&sec=2
  • Microsoft Word - Revisione 5
    differiscono per una sostituzione aminoacidica nel codone 173 (K173N), la quale ... una sopravvivenza maggiore, rispetto ai genotipi GSTM1*A e GSTM1*B (Lo HW ...
    tesi.cab.unipd.it/21543/1/Rami_Damiano.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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