NQO1 P187S - GET-Evidence

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

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NQO1 P187S

(NQO1 Pro187Ser)

Short summary


Variant evidence
Computational 3

GVGD: GV 0.00; GD 73.35; Class C65
Variant Effect Predictor (Ensembl ):
Mutation Tasting prediction: Polymorphism p value: 0.007316; no protein features affected.

Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pharmacogenetic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • A @ chr16:69745145: 19.7% (2121/10758) in EVS
  • A @ chr16:68302645: 22.7% (29/128) in GET-Evidence
  • Frequency shown in summary reports: 19.7% (2121/10758)


Blanco JG, Leisenring WM, Gonzalez-Covarrubias VM, Kawashima TI, Davies SM, Relling MV, Robison LL, Sklar CA, Stovall M, Bhatia S. Genetic polymorphisms in the carbonyl reductase 3 gene CBR3 and the NAD(P)H:quinone oxidoreductase 1 gene NQO1 in patients who developed anthracycline-related congestive heart failure after childhood cancer. Cancer. 2008 Jun 15;112(12):2789-95. PubMed PMID: 18457324.


Fagerholm R, Hofstetter B, Tommiska J, Aaltonen K, Vrtel R, Syrjäkoski K, Kallioniemi A, Kilpivaara O, Mannermaa A, Kosma VM, Uusitupa M, Eskelinen M, Kataja V, Aittomäki K, von Smitten K, Heikkilä P, Lukas J, Holli K, Bartkova J, Blomqvist C, Bartek J, Nevanlinna H. NAD(P)H:quinone oxidoreductase 1 NQO1*2 genotype (P187S) is a strong prognostic and predictive factor in breast cancer. Nat Genet. 2008 Jul;40(7):844-53. Epub 2008 May 30. PubMed PMID: 18511948.



hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr16:69745145


hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom A @ chr16:69745145



hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr16:69745145



hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom A @ chr16:69745145


hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr16:69745145


hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr16:69745145




hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr16:69745145


hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom A @ chr16:69745145


huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het A @ chr16:69745145



huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr16:69745145


huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr16:69745145


huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr16:69745145


huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr16:69745145


huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr16:69745145


GS06985 - var-GS06985-1100-36-ASM
het A @ chr16:68302646


GS06994 - var-GS06994-1100-36-ASM
het A @ chr16:68302646


GS07357 - var-GS07357-1100-36-ASM
het A @ chr16:68302646


GS12004 - var-GS12004-1100-36-ASM
het A @ chr16:68302646


GS18526 - var-GS18526-1100-36-ASM
het A @ chr16:68302646


GS18537 - var-GS18537-1100-36-ASM
hom A @ chr16:68302646


GS18555 - var-GS18555-1100-36-ASM
het A @ chr16:68302646


GS18558 - var-GS18558-1100-36-ASM
het A @ chr16:68302646


GS18942 - var-GS18942-1100-36-ASM
het A @ chr16:68302646


GS18956 - var-GS18956-1100-36-ASM
het A @ chr16:68302646


GS19238 - var-GS19238-1100-36-ASM
het A @ chr16:68302646


GS19670 - var-GS19670-1100-36-ASM
het A @ chr16:68302646


GS19700 - var-GS19700-1100-36-ASM
hom A @ chr16:68302646


GS19704 - var-GS19704-1100-36-ASM
het A @ chr16:68302646


GS19735 - var-GS19735-1100-36-ASM
het A @ chr16:68302646


GS21767 - var-GS21767-1100-36-ASM
het A @ chr16:68302646




Other external references

  • rs1800566
  • [1-methyloxy-4-sulfone-benzene; cisplatin; dicumarol; doxorubicin]
    This variant causes the NQO1 protein to be rapidly degraded. Also, the NQO1*2 variant is in the active site of NQO1, leading to decreased NQO1 activity.
  • [Breast Neoplasms]
    This homozygous variant predicts poor survival among two independent series of women with breast cancer. This effect is particularly evident after anthracycline-based adjuvant chemotherapy with epirubicin and in p53-aberrant tumors.
  • [Cardiomyopathies; Drug Toxicity; Heart Failure]
    Risk or phenotype-associated allele: C/T. Phenotype: There was no association between the NQO1*2 polymorphism and the risk of anthracycline-related CHF. Study size: 145. Study population/ethnicity: Nested case-control study was conducted within a cohort of 1979 patients enrolled in the Childhood Cancer Survivor Study who received treatment with anthracyclines and had available DNA. Significance metric(s): OR = 1.04; p = 0.97. Type of association: CO; TOX; ADR.
  • Score: 0.215 (possibly damaging)

Other in silico analyses

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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