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Recognized gene
MSH2
Normalized c.HGVS
c.-76G>A, c.101T>G, c.1144C>A, c.1160T>G, c.1168C>G and 44 more
Normalized p.HGVS
p.(Ala107Asp), p.(Ala107Val), p.(Ala2_Glu7dup), p.(Ala45Glu), p.(Arg382Ser) and 40 more
Matching records
893
PM3-positive records
14
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 |
|---|---|---|---|---|---|---|
| MSH2 |
NM_000251.3:c.1807G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
41788709
Case Report: CYLD cutaneous syndrome with malignant transformation to spiradenocarcinoma: cooperative effects of CYLD truncation and an MSH2 clamp-domain variant in an Ecuadorian patient.
Frontiers in medicine, 2026
|
Main article | |
| MSH2 |
NM_000251.3:c.1241T>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
37919876
Rare single-nucleotide variants of MLH1 and MSH2 genes in patients with Lynch syndrome.
Cancer reports (Hoboken, N.J.), 2024
|
Main article | |
| MSH2 |
NM_000251.3:c.158C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with D660fs*25; D660fs*25
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 | |
| MSH2 |
NM_000251.3:c.485G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.G287C; p.G96A
context: Compound heterozygous candidate
|
32099531
Establishment and characterization of patient-derived cancer models of malignant peripheral nerve sheath tumors.
Cancer cell international, 2020
|
Supplementary material | |
| MSH2 |
NM_000251.3:c.836T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with L147P
context: Compound heterozygous candidate
|
31650022
The Discordance of Gene Mutations between Circulating Tumor Cells and Primary/Metastatic Tumor.
Molecular therapy oncolytics, 2019
|
Supplementary material | |
| MSH2 |
NM_000251.3:c.1223A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
31237724
Functional interrogation of Lynch syndrome-associated MSH2 missense variants via CRISPR-Cas9 gene editing in human embryonic stem cells.
Human mutation, 2019
|
Main article | |
| MSH2 |
NM_000251.3:c.1601G>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with E881*; M663_H665del
context: Compound heterozygous candidate
|
31175329
Colorectal carcinoma with double somatic mismatch repair gene inactivation: clinical and pathological characteristics and response to immune checkpoint blockade.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2019
|
Main article | |
| MSH2 |
NM_000251.3:c.2785C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.A1690G; p.T564A
context: Compound heterozygous candidate
|
29506494
Targeted next generation sequencing identified clinically actionable mutations in patients with esophageal sarcomatoid carcinoma.
BMC cancer, 2018
|
Main article | |
| MSH2 |
NM_000251.3:c.274C>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
28929227
Genetic predisposition in children with cancer - affected families' acceptance of Trio-WES.
European journal of pediatrics, 2018
|
Main article | |
| MSH2 |
NM_000251.3:c.611G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.A1184G; c.A542G; c.G133A; +5 more
context: Compound heterozygous candidate
|
28978093
Molecular characterization of circulating colorectal tumor cells defines genetic signatures for individualized cancer care.
Oncotarget, 2017
|
Supplementary material | |
| MSH2 |
NM_000251.3:c.2785C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Potential PM3 evidence identified; genotype context not structured
context: PM3 evidence context not structured
|
26446363
Co-occurrence of nonsense mutations in MSH6 and MSH2 in Lynch syndrome families evidencing that not all truncating mutations are equal.
Journal of human genetics, 2016
|
Main article | |
| MSH2 |
NM_000251.3:c.2785C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: PM3 evidence context not structured
|
24344984
Mutation spectrum in South American Lynch syndrome families.
Hereditary cancer in clinical practice, 2013
|
Main article | |
| MSH2 |
NM_000251.3:c.1024G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
24278394
Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.
PloS one, 2013
|
Supplementary material | |
| MSH2 |
NM_000251.3:c.1A>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with deletion of the first 6 exons of MSH2
context: Compound heterozygous candidate
|
21837758
The predicted truncation from a cancer-associated variant of the MSH2 initiation codon alters activity of the MSH2-MSH6 mismatch repair complex.
Molecular carcinogenesis, 2012
|
Main article | |
| MSH2 |
NM_000251.3:c.2785C>T
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
37283096
Mismatch repair gene germline mutations in patients with prostate cancer.
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences, 2023
|
Main article | |
| MSH2 |
NM_000251.3:c.2507T>C
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
36550560
Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.
Genome biology, 2022
|
Supplementary material | |
| MSH2 |
NM_000251.3:c.103C>T
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
28978093
Molecular characterization of circulating colorectal tumor cells defines genetic signatures for individualized cancer care.
Oncotarget, 2017
|
Supplementary material | |
| MSH2 |
NM_000251.3:c.515A>G
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41756010
Enhancement of prime editing by recruiting engineered or evolved components and implementing novel strategies.
Biochemistry and biophysics reports, 2026
|
Main article | |
| MSH2 |
NM_000251.3:c.2224G>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41650745
Mismatch repair deficiency and microsatellite instability in adrenocortical carcinoma.
ESMO open, 2026
|
Main article | |
| MSH2 |
NM_000251.3:c.380A>C
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41380165
Genotyping and molecular dynamic simulations reveal the role of MSH2 DNA repair polymorphisms in lung cancer risk.
Journal of biomolecular structure & dynamics, 2025
|
Unknown | |