Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
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You are viewing an old version of this page that was saved on April 8, 2016 at 1:21pm by Madeleine Ball.
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.
Insufficiently evaluated pathogenic
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
Added in this revision:
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