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 1:22pm by Madeleine Ball.

Edited in this revision:

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.



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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