GENE REFERENCE / HGNC:7527

MUTYH

mutY DNA glycosylase

protein-coding gene1p34.1Gene information

What does this gene do?

The MUTYH gene provides instructions for making an enzyme called adenine DNA glycosylase, which is involved in the repair of DNA. This enzyme corrects some of the errors that are made when DNA is copied (DNA replication) in preparation for cell division.

The building blocks of DNA are made up of four chemical bases: adenine, thymine, guanine, and cytosine. Each of these bases pairs with a specific partner to form a unit called a base pair. Normally, adenine pairs with thymine (written as A-T) and guanine pairs with cytosine (written as G-C). However, guanine can be altered by a chemical reaction called oxidation, which causes it to pair with adenine instead of cytosine. The adenine DNA glycosylase enzyme is part of the repair process that finds and fixes these errors. Once the altered guanine is fixed, adenine DNA glycosylase will remove the mismatched adenine. This process is known as base excision repair.

Source: MedlinePlus, National Library of Medicine. Source publication: 2025-08-26. Source review: 2025-08.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
familial ovarian cancerMONDO:0016248 · Evaluated 2023-12-20	Autosomal recessive	DisputedHereditary Cancer Gene Curation Expert Panel
familial ovarian cancerMONDO:0016248 · Evaluated 2023-12-20	Autosomal dominant	DisputedHereditary Cancer Gene Curation Expert Panel
familial adenomatous polyposis 2MONDO:0012041 · Evaluated 2022-06-20	Autosomal recessive	DefinitiveHereditary Cancer Gene Curation Expert Panel
hereditary breast carcinomaMONDO:0016419 · Evaluated 2023-12-21	Autosomal recessive	DisputedHereditary Cancer Gene Curation Expert Panel
colorectal cancerMONDO:0005575 · Evaluated 2023-03-24	Autosomal dominant	DisputedHereditary Cancer Gene Curation Expert Panel
hereditary breast carcinomaMONDO:0016419 · Evaluated 2023-12-21	Autosomal dominant	RefutedHereditary Cancer Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 4,247
Submissions for variants in or overlapping this gene: 10,338
Submissions explicitly reporting this gene: 10,314
Alleles reported pathogenic / likely pathogenic: 436
VariationIDs with uncertain significance: 1,919
VariationIDs with conflicting classifications: 687

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about MUTYH?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 436 alleles in MUTYH reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in MUTYH.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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