ELAC2 S217L - GET-Evidence

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(ELAC2 Ser217Leu)

You are viewing an old version of this page that was saved on April 11, 2010 at 10:19am by Madeleine Ball.

Short summary


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


Insufficiently evaluated pathogenic

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

Inheritance pattern


Summary of published research, and additional commentary

Case/control numbers are used from cases referenced by Xu et al. (where they note that they only use numbers from the most recent publication when multiple publications used the same data source). Case+ and case- are counting the instances of the variant allele vs. reference allele in cases.

Total cases/controls case+ case– control+ control– p-value odds ratio
Prostate cancer
164 560 233 805 0.9538 1.012


Allele frequency

  • A @ chr17:12915009: 27.3% (2942/10758) in EVS
  • A @ chr17:12855733: 24.6% (31/126) in GET-Evidence
  • Frequency shown in summary reports: 27.3% (2942/10758)


Shea PR, Ferrell RE, Patrick AL, Kuller LH, Bunker CH. ELAC2 and prostate cancer risk in Afro-Caribbeans of Tobago. Hum Genet. 2002 Oct;111(4-5):398-400. Epub 2002 Aug 21. PubMed PMID: 12384782.

In a study of Afro-Caribbean males from Tobago, S217L and A514T polymorphisms were genotyped in cases and controls. (A514T was homozygous for reference/low-risk allele in all cases and controls.) For S217L the case/control numbers are: case S/S: 71, case S/L: 43, case L/L: 5. Control S/S: 130, control S/L: 82, Control L/L: 11.

Cases/controls case+ case– control+ control– p-value odds ratio
Prostate cancer
53 185 104 342 0.7755 0.942


Yokomizo A, Koga H, Kinukawa N, Tsukamoto T, Hirao Y, Akaza H, Mori M, Naito S. HPC2/ELAC2 polymorphism associated with Japanese sporadic prostate cancer. Prostate. 2004 Nov 1;61(3):248-52. PubMed PMID: 15368467.

A screen of 285 sporadic prostate cancer cases in Japanese patients and 233 matched controls for S217L and A541T. case S/S: 271, S/L: 14, L/L: 0. Control S/S: 224, S/L: 9, L/L: 0.

Robbins CM, Hernandez W, Ahaghotu C, Bennett J, Hoke G, Mason T, Pettaway CA, Vijayakumar S, Weinrich S, Furbert-Harris P, Dunston G, Powell IJ, Carpten JD, Kittles RA. Association of HPC2/ELAC2 and RNASEL non-synonymous variants with prostate cancer risk in African American familial and sporadic cases. Prostate. 2008 Dec 1;68(16):1790-7. PubMed PMID: 18767027.

A study in African American families found little correlation between S217L and prostate cancer (they note a p=0.03 difference in heterozygote sporadic cases). Sporadic cases: L/L: 3, S/L: 69, S/S: 83. Familial cases: L/L: 3, S/L: 30, S/S: 55. Controls: L/L: 15, S/L: 99, S/S: 182. Combined numbers, counting alleles is used below.

Cases/controls case+ case– control+ control– p-value odds ratio
Prostate cancer
111 375 129 463 0.7131 1.062


Xu B, Tong N, Li JM, Zhang ZD, Wu HF. ELAC2 polymorphisms and prostate cancer risk: a meta-analysis based on 18 case-control studies. Prostate Cancer Prostatic Dis. 2010 Mar 16. [Epub ahead of print] PubMed PMID: 20231859.

The most recent meta-analysis of ELAC2 polymorphisms Ser217Leu and Ala541Thr, this concludes that these are associated with prostate cancer and may be “low-penetrance susceptibility markers of prostate cancer”. They note that there is publication bias for results supporting pathogenicity (p = 0.006) but that no single paper is necessary for their conclusion of pathogenicity (ie removal of any single paper doesn’t change this result).


huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom A @ chr17:12915009
















Other external references

  • rs4792311
  • Score: 0.025 (benign)
    Web search results (50 hits -- see all)
  • ELAC2 and prostate cancer risk in Afro-Caribbeans of Tobago.
    ELAC2 and prostate cancer risk in Afro-Caribbeans of Tobago. ... The frequency of the high-risk Leu allele at the S217L site was the same in cases and controls. ...
  • Mendelian Inheritance in Man Document Reader
    ELAC2 is a member of an uncharacterized gene family predicted to encode a metal-dependent ... reported missense changes, S217L and A541T, were identified ...
  • ELAC2 (elaC homolog 2 (E. coli))
    ELAC2 (elaC homolog 2 (E. coli)), Authors: Yang Chen, Sean Tavtigian, Donna Shattuck. Published in: Atlas Genet Cytogenet Oncol Haematol.
  • Table 1
    dietary fats; may account for 20% of. Alzheimer disease. Age-related ... ELAC2. S217L. Prostate cancer. 0.30 and 0.04. Increased risk. Odds ratio 2.4-3.1. and A541T ...
  • AceView: Gene:ELAC2, 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 ...
  • Characterization of TRZ1 , a yeast homolog of the human ...
    In humans, mutation of ELAC2 is associated with an increased risk of prostate cancer. ... ELAC2 (S217L) No. ELAC2 (A541T) No. ELAC2 (R781H) No. ELAC2 (1641insG) No. ELAC1. No. TRZ1 WT ...
  • Selected article
    Science, global weekly of science ... S217L. A541T. Japanese. 350 sporadic. 242 control. prostate cancer risk. 95. A541T. Japanese. 285 sporadic. 233 control. OR 4.02 (1.50, 10.8) ...
  • Polymorphisms in the Prostate Cancer Susceptibility Gene HPC2 ...
    ... HPC2/ELAC2 that throws translation out of frame after amino acid 547 and that ... The S217L variation was detected as follows: 37 ng of genomic DNA was amplified ...

Other in silico analyses

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

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Gene search

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