ELAC2 S217L - GET-Evidence

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

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(ELAC2 Ser217Leu)

You are viewing an old version of this page that was saved on December 27, 2009 at 4:09pm by Genome Importing Robot.

Short summary


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


Insufficiently evaluated not reviewed

(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 @ 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)





Added in this revision:



Other external references

  • 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

Edit history

Gene search

"GENE" or "GENE A123C":

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