SOD2 V16A - 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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SOD2 V16A

(SOD2 Val16Ala)


You are viewing an old version of this page that was saved on October 14, 2012 at 12:50pm by Natalia Trikoz.

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 @ chr6:160113872: 47.6% (5122/10756) in EVS
  • G @ chr6:160033861: 40.0% (48/120) in GET-Evidence
  • Frequency shown in summary reports: 47.6% (5122/10756)

Publications
 

Added in this revision:

Kang D, Lee KM, Park SK, Berndt SI, Peters U, Reding D, Chatterjee N, Welch R, Chanock S, Huang WY, Hayes RB. Functional variant of manganese superoxide dismutase (SOD2 V16A) polymorphism is associated with prostate cancer risk in the prostate, lung, colorectal, and ovarian cancer study. Cancer Epidemiol Biomarkers Prev. 2007 Aug;16(8):1581-6. Epub 2007 Jul 23. PubMed PMID: 17646272.

 

Glynn SA, Boersma BJ, Howe TM, Edvardsen H, Geisler SB, Goodman JE, Ridnour LA, Lønning PE, Børresen-Dale AL, Naume B, Kristensen VN, Chanock SJ, Wink DA, Ambs S. A mitochondrial target sequence polymorphism in manganese superoxide dismutase predicts inferior survival in breast cancer patients treated with cyclophosphamide. Clin Cancer Res. 2009 Jun 15;15(12):4165-73. Epub 2009 Jun 9. PubMed PMID: 19509150; PubMed Central PMCID: PMC2697269.

 

Kondo N, Bessho H, Honda S, Negi A. SOD2 gene polymorphisms in neovascular age-related macular degeneration and polypoidal choroidal vasculopathy. Mol Vis. 2009 Sep 9;15:1819-26. PubMed PMID: 19753309; PubMed Central PMCID: PMC2742636.

 

Möllsten A, Jorsal A, Lajer M, Vionnet N, Tarnow L. The V16A polymorphism in SOD2 is associated with increased risk of diabetic nephropathy and cardiovascular disease in type 1 diabetes. Diabetologia. 2009 Dec;52(12):2590-3. Epub 2009 Oct 16. PubMed PMID: 19834686.

 

Liu YM, Li XD, Guo X, Liu B, Lin AH, Ding YL, Rao SQ. SOD2 V16A SNP in the mitochondrial targeting sequence is associated with noise induced hearing loss in Chinese workers. Dis Markers. 2010;28(3):137-47. PubMed PMID: 20534900.

 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr6:160113872

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr6:160113872

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr6:160113872

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr6:160113872

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr6:160113872

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het G @ chr6:160113872

 

GS06985 - var-GS06985-1100-36-ASM
het G @ chr6:160033862

 

GS06994 - var-GS06994-1100-36-ASM
het G @ chr6:160033862

 

GS10851 - var-GS10851-1100-36-ASM
hom G @ chr6:160033862

 

GS18502 - var-GS18502-1100-36-ASM
het G @ chr6:160033862

 

GS18504 - var-GS18504-1100-36-ASM
het G @ chr6:160033862

 

GS18508 - var-GS18508-1100-36-ASM
hom G @ chr6:160033862

 

GS18517 - var-GS18517-1100-36-ASM
het G @ chr6:160033862

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr6:160033862

 

GS19017 - var-GS19017-1100-36-ASM
het G @ chr6:160033862

 

GS19020 - var-GS19020-1100-36-ASM
het G @ chr6:160033862

 

GS19026 - var-GS19026-1100-36-ASM
hom G @ chr6:160033862

 

GS19129 - var-GS19129-1100-36-ASM
hom G @ chr6:160033862

 

GS19238 - var-GS19238-1100-36-ASM
het G @ chr6:160033862

 

GS19240 - var-GS19240-1100-36-ASM
het G @ chr6:160033862

 

GS19648 - var-GS19648-1100-36-ASM
hom G @ chr6:160033862

 

GS19669 - var-GS19669-1100-36-ASM
het G @ chr6:160033862

 

GS19670 - var-GS19670-1100-36-ASM
het G @ chr6:160033862

 

GS19700 - var-GS19700-1100-36-ASM
hom G @ chr6:160033862

 

GS19701 - var-GS19701-1100-36-ASM
het G @ chr6:160033862

 

GS19703 - var-GS19703-1100-36-ASM
het G @ chr6:160033862

 

GS19704 - var-GS19704-1100-36-ASM
hom G @ chr6:160033862

 

GS19735 - var-GS19735-1100-36-ASM
hom G @ chr6:160033862

 

GS19834 - var-GS19834-1100-36-ASM
het G @ chr6:160033862

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr6:160033862

 

GS21767 - var-GS21767-1100-36-ASM
hom G @ chr6:160033862

 

Other external references
 

    dbSNP
  • rs4880
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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