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 the latest version of this page, saved on April 8, 2016 at 1:25pm 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.


Pitroski CE, Cossio SL, Koehler-Santos P, Graudenz M, Prolla JC, Ashton-Prolla P. Frequency of the common germline MUTYH mutations p.G396D and p.Y179C in patients diagnosed with colorectal cancer in Southern Brazil. Int J Colorectal Dis. 2011 Jul;26(7):841-6. doi: 10.1007/s00384-011-1172-1. Epub 2011 Mar 22. PubMed PMID: 21424714.


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.


Added in this revision:

Rosner G, Bercovich D, Daniel YE, Strul H, Fliss-Isakov N, Ben-Yehoiada M, Santo E, Halpern Z, Kariv R. Increased risk for colorectal adenomas and cancer in mono-allelic MUTYH mutation carriers: results from a cohort of North-African Jews. Fam Cancer. 2015 Sep;14(3):427-36. doi: 10.1007/s10689-015-9799-7. PubMed PMID: 25822476.



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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