AURKA F31I - GET-Evidence

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

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(AURKA Phe31Ile)

Short summary

The AURKA (STK15) 91T->A variant is preferentially amplified and linked to the degree of aneuploidy in colon tumors. The variant is a low-penetrance cancer susceptibility allele associated with multiple cancer types.

Variant evidence
Computational -
Functional -
Case/Control 4

Report OR of 1.4 for 91A homozygotes (95% CI of 1.22—1.59, P-value < 0.001) and 1.10 for heterozygotes (95% CI 1.03—1.18, P-value = 0.006).

See 15802297.

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


Allele frequency

  • T @ chr20:54961541: 18.8% (2018/10758) in EVS
  • T @ chr20:54394947: 23.4% (30/128) in GET-Evidence
  • Frequency shown in summary reports: 18.8% (2018/10758)


Ewart-Toland A, Briassouli P, de Koning JP, Mao JH, Yuan J, Chan F, MacCarthy-Morrogh L, Ponder BA, Nagase H, Burn J, Ball S, Almeida M, Linardopoulos S, Balmain A. Identification of Stk6/STK15 as a candidate low-penetrance tumor-susceptibility gene in mouse and human. Nat Genet. 2003 Aug;34(4):403-12. PubMed PMID: 12881723.

Based on mouse studies, AURKA (STK15) was identified as a candidate skin tumor susceptibility gene. STK15 is frequently amplified in human colon cancers and other tumor types. The authors identified the STK15 91T->A variant and showed “statistically significant allele-specific amplification of the 91A allele (P = 0.018, chi squared test), providing additional evidence for the role of this allele in human cancer”. Individuals with even one copy of the 91A allele develop tumors with a higher degree of aneuploidy than homozygous 91T individuals.

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PubMed PMID: 15802297

Meta-analysis confirmed that the 91A polymorphism is a low-penetrance cancer susceptibility allele in several cancer types, with greater risk for the 91A homozygotes. When the results were combined in a meta-analysis, the authors “found an OR of 1.4 for the T+91A homozygotes (95% CI of 1.22—1.59, P-value < 0.001)” and a “modest but significant increase in risk in the T+91A heterozygotes (OR = 1.10, 95% CI 1.03—1.18, P-value = 0.006)”.


hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr20:54961541


hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr20:54961541


hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr20:54961541


hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom T @ chr20:54961541



hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr20:54961541


hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr20:54961541


hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr20:54961541


hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom T @ chr20:54961541


huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr20:54961541


huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr20:54961541


huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom T @ chr20:54961541


GS18501 - var-GS18501-1100-36-ASM
het T @ chr20:54394948


GS18505 - var-GS18505-1100-36-ASM
het T @ chr20:54394948


GS18517 - var-GS18517-1100-36-ASM
het T @ chr20:54394948


GS18526 - var-GS18526-1100-36-ASM
het T @ chr20:54394948


GS18537 - var-GS18537-1100-36-ASM
hom T @ chr20:54394948


GS18555 - var-GS18555-1100-36-ASM
hom T @ chr20:54394948


GS18940 - var-GS18940-1100-36-ASM
hom T @ chr20:54394948


GS18942 - var-GS18942-1100-36-ASM
het T @ chr20:54394948


GS18947 - var-GS18947-1100-36-ASM
hom T @ chr20:54394948


GS18956 - var-GS18956-1100-36-ASM
het T @ chr20:54394948


GS19020 - var-GS19020-1100-36-ASM
het T @ chr20:54394948


GS19025 - var-GS19025-1100-36-ASM
het T @ chr20:54394948


GS19129 - var-GS19129-1100-36-ASM
het T @ chr20:54394948


GS19238 - var-GS19238-1100-36-ASM
hom T @ chr20:54394948


GS19240 - var-GS19240-1100-36-ASM
het T @ chr20:54394948


GS19704 - var-GS19704-1100-36-ASM
het T @ chr20:54394948


GS19735 - var-GS19735-1100-36-ASM
het T @ chr20:54394948


GS19834 - var-GS19834-1100-36-ASM
het T @ chr20:54394948


GS20509 - var-GS20509-1100-36-ASM
het T @ chr20:54394948


GS21767 - var-GS21767-1100-36-ASM
hom T @ chr20:54394948


Other external references

  • rs2273535

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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