MUTYH Y152C - GET-Evidence

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

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(MUTYH Tyr152Cys)

You are viewing an old version of this page that was saved on April 8, 2016 at 1:21pm by Madeleine Ball.

Short summary

Reported by numerous labs in ClinVar (, causing MUTYH-associated polyposis (MAP) in a recessive manner. Affected individuals have a greatly increased lifetime risk of colorectal cancer. GET-Evidence predicts “Y152C” for this genomic variation, but ClinVar reports the variant as MUTYH Y179C. Carriers may also have some increased risk for colorectal cancer.

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity 4
Treatability 4
Penetrance 5


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

  • None available.


Added in this revision:

Casper M, Plotz G, Juengling B, Zeuzem S, Lammert F, Raedle J. MUTYH hotspot mutations in unselected colonoscopy patients. Colorectal Dis. 2012 May;14(5):e238-44. doi: 10.1111/j.1463-1318.2012.02920.x. PubMed PMID: 22469480.


Casper M, Acalovschi M, Lammert F, Zimmer V. The MUTYH hotspot mutations p.G396D and p.Y179C do not cause substantial genetic susceptibility to biliary cancer. Fam Cancer. 2014 Jun;13(2):243-7. doi: 10.1007/s10689-014-9699-2. PubMed PMID: 24420788.



Other external references

Other in silico analyses

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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