MUTYH Y152C - GET-Evidence

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

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Curation:
Currentness:

MUTYH Y152C

(MUTYH Tyr152Cys)


Short summary

Reported by numerous labs in ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/variation/5293/), 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
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

recessive

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

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.

 

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.

 

Genomes
 

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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