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Recognized gene
MUTYH
Normalized c.HGVS
c.-3G>A, c.-3G>C, c.-3G>T, c.1015C>G, c.1103G>T and 44 more
Normalized p.HGVS
p.(=), p.(Ala259Thr), p.(Ala2Gly), p.(Ala2Val), p.(Arg157Gln) and 37 more
Matching records
887
PM3-positive records
36
Results are ordered by PM3-relevant evidence first. Reviewed source only indicates whether main text, supplementary material, or both were reviewed; it is not the evidence conclusion.
| Gene | Variant | Evidence | PM3 context | Publication | Reviewed source | Actions |
|---|---|---|---|---|---|---|
| MUTYH |
NM_001048174.2:c.1103G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.536A>G; c.721C>T; p.Arg241Trp; +1 more
context: Compound heterozygous candidate
|
41347765
KRAS-G12C: The neglected biomarker to detect patients with MUTYH-associated polyposis.
International journal of cancer, 2026
|
Main article | |
| MUTYH |
NM_001048174.2:c.1103G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with G368D; Y151C
context: Compound heterozygous candidate
|
40093110
Saturation mapping of MUTYH variant effects using DNA repair reporters.
bioRxiv : the preprint server for biology, 2025
|
Main article | |
| MUTYH |
NM_001048174.2:c.1103G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
40065011
Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort.
European journal of human genetics : EJHG, 2025
|
Main article | |
| MUTYH |
NM_001048174.2:c.544C>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.452 A > G; p.(Tyr151Cys)
context: Compound heterozygous candidate
|
40065011
Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort.
European journal of human genetics : EJHG, 2025
|
Main article | |
| MUTYH |
NM_001048174.2:c.1103G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
40225933
Phenotype Correlations With Pathogenic DNA Variants in the MUTYH Gene: A Review of Over 2000 Cases.
Human mutation, 2024
|
Main article | |
| MUTYH |
NM_001048174.2:c.1103G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
39301547
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Frontiers in oncology, 2024
|
Supplementary material | |
| MUTYH |
NM_001048174.2:c.1103G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.E453del; p.R109W; p.R97Q
context: Compound heterozygous candidate
|
38254803
Prevalence and Distribution of MUTYH Pathogenic Variants, Is There a Relation with an Increased Risk of Breast Cancer?
Cancers, 2024
|
Main article | |
| MUTYH |
NM_001048174.2:c.1103G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with Y165C
context: Compound heterozygous candidate
|
37568048
Potential pathogenic germline variant reporting from tumor comprehensive genomic profiling complements classic approaches to germline testing.
NPJ precision oncology, 2023
|
Main article | |
| MUTYH |
NM_001048174.2:c.1103G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.536A>G; p.Tyr179Cys
context: Compound heterozygous candidate
|
37453563
Elucidating the Risk of Colorectal Cancer for Variants in Hereditary Colorectal Cancer Genes.
Gastroenterology, 2023
|
Main article | |
| MUTYH |
NM_001048174.2:c.1103G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
35867948
Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study.
JCO global oncology, 2022
|
Main article | |
| MUTYH |
NM_001048174.2:c.1103G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.536 G>A; p.Y179C
context: Compound heterozygous candidate
|
35803914
Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells.
Nature communications, 2022
|
Supplementary material | |
| MUTYH |
NM_001048174.2:c.1103G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.536A > G; p.Tyr179Cys
context: Compound heterozygous candidate
|
35739278
Enrichment of cancer-predisposing germline variants in adult and pediatric patients with acute lymphoblastic leukemia.
Scientific reports, 2022
|
Main article | |
| MUTYH |
NM_001048174.2:c.1336C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.603G>T; p.M201I
context: Compound heterozygous candidate
|
35668106
Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures.
Nature communications, 2022
|
Main article | |
| MUTYH |
NM_001048174.2:c.1381G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.536A>G; c.933+3A>C; p.Y179C
context: Compound heterozygous candidate
|
35668106
Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures.
Nature communications, 2022
|
Main article | |
| MUTYH |
NM_001048174.2:c.262C>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
33806975
The Inherited and Familial Component of Early-Onset Colorectal Cancer.
Cells, 2021
|
Main article | |
| MUTYH |
NM_001048174.2:c.1103G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
33087929
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Nature, 2020
|
Main article | |
| MUTYH |
NM_001048174.2:c.1103G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.G396D
context: Compound heterozygous candidate
|
32133419
Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes.
NPJ precision oncology, 2020
|
Main article | |
| MUTYH |
NM_001048174.2:c.375G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with W99*
context: Compound heterozygous candidate
|
32118206
Targeted next-generation sequencing of 565 neuro-oncology patients at UCLA: A single-institution experience.
Neuro-oncology advances, 2020
|
Supplementary material | |
| MUTYH |
NM_001048174.2:c.1222C>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
31104418
Association of a New Germline Variant in the MUTYH DNA Glycosylase Gene with Colorectal Adenoma Transformation into Malignancy.
Iranian biomedical journal, 2019
|
Main article | |
| MUTYH |
NM_001048174.2:c.424G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
31104418
Association of a New Germline Variant in the MUTYH DNA Glycosylase Gene with Colorectal Adenoma Transformation into Malignancy.
Iranian biomedical journal, 2019
|
Main article | |