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Recognized gene
MSH6
Normalized c.HGVS
c.-4C>G, c.-6G>A, c.1000A>C, c.1000A>G, c.1003A>C and 44 more
Normalized p.HGVS
p.(=), p.(Ala339Asp), p.(Ala339Gly), p.(Ala339Thr), p.(Ala339Val) and 43 more
Matching records
1961
PM3-positive records
11
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 |
|---|---|---|---|---|---|---|
| MSH6 |
NM_000179.3:c.4070T>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
41572278
Clinical and molecular characteristics of constitutional mismatch repair deficiency syndrome: a case series of five children and appraisal of diagnostic guidelines.
Diagnostic pathology, 2026
|
Main article | |
| MSH6 |
NM_000179.3:c.254C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.3869C>T; Ser1290Leu
context: Compound heterozygous candidate
|
40554495
Genetic profiling of inherited colorectal cancer syndromes in Tunisian patients.
PloS one, 2025
|
Main article | |
| MSH6 |
NM_000179.3:c.2018C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1084C>T; p.(Pro362Ser)
context: Compound heterozygous candidate
|
32941469
The proportion of endometrial tumours associated with Lynch syndrome (PETALS): A prospective cross-sectional study.
PLoS medicine, 2020
|
Main article | |
| MSH6 |
NM_000179.3:c.1196C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2061T>G; p.Cys687Trp
context: Compound heterozygous candidate
|
32642664
Constitutional mismatch repair deficiency-associated brain tumors: report from the European C4CMMRD consortium.
Neuro-oncology advances, 2019
|
Main article | |
| MSH6 |
NM_000179.3:c.3517G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.3811_3824del14; p.Val1271*
context: Compound heterozygous candidate
|
30680046
Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.
Hereditary cancer in clinical practice, 2019
|
Supplementary material | |
| MSH6 |
NM_000179.3:c.2008G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with second, known pathogenic mutation in one of the DNA MMR genes
context: Compound heterozygous candidate
|
28531214
Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.
PLoS genetics, 2017
|
Main article | |
| MSH6 |
NM_000179.3:c.2876G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with LOH
context: Compound heterozygous candidate
|
27300758
Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients.
PloS one, 2016
|
Main article | |
| MSH6 |
NM_000179.3:c.3146C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1082G>A; c.2912G>A; c.3438+1G>A; +5 more
context: Compound heterozygous candidate
|
27161972
Evaluating Cancer of the Central Nervous System Through Next-Generation Sequencing of Cerebrospinal Fluid.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2016
|
Supplementary material | |
| MSH6 |
NM_000179.3:c.2876G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2735G>A; p.(W912*)
context: Compound heterozygous candidate
|
26648449
Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers.
European journal of human genetics : EJHG, 2016
|
Main article | |
| MSH6 |
NM_000179.3:c.3971AGA[1]
|
Phase-unconfirmed biallelic evidence
Not assessed
|
Homozygous for query variant
context: Homozygous evidence
|
26437257
Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.
PloS one, 2015
|
Main article | |
| MSH6 |
NM_000179.3:c.325C>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
18676759
Mismatch repair deficiency does not mediate clinical resistance to temozolomide in malignant glioma.
Clinical cancer research : an official journal of the American Association for Cancer Research, 2008
|
Main article | |
| MSH6 |
NM_000179.3:c.2291C>T
|
Other Patient-Level Evidence
Needs review
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
37347260
A comprehensive study on surveillance outcomes of a male population followed at a hereditary breast cancer high-risk consultation at a Portuguese tertiary hospital.
Journal of cancer research and clinical oncology, 2023
|
Main article | |
| MSH6 |
NM_000179.3:c.1445G>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
37216304
POLE exonuclease domain mutations in endometrial carcinoma: a case report.
Pathologica, 2023
|
Main article | |
| MSH6 |
NM_000179.3:c.3601C>T
|
Other Patient-Level Evidence
Needs review
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
36260514
How should we address the inevitable harms from non-negligent variant reclassification in predictive genetic testing?
Journal of genetic counseling, 2023
|
Main article | |
| MSH6 |
NM_000179.3:c.2524G>A
|
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 | |
| MSH6 |
NM_000179.3:c.3256C>G
|
Other Patient-Level Evidence
Low confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
36531003
Germline and somatic variants in ovarian carcinoma: A next-generation sequencing (NGS) analysis.
Frontiers in oncology, 2022
|
Supplementary material | |
| MSH6 |
NM_000179.3:c.1805C>T
|
Other Patient-Level Evidence
Low confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
34848827
Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors.
Laboratory investigation; a journal of technical methods and pathology, 2022
|
Supplementary material | |
| MSH6 |
NM_000179.3:c.3572T>C
|
Other Patient-Level Evidence
High confidence
|
No PM3 candidate genotype identified |
33008098
Gene Panel Tumor Testing in Ovarian Cancer Patients Significantly Increases the Yield of Clinically Actionable Germline Variants beyond BRCA1/BRCA2.
Cancers, 2020
|
Main article | |
| MSH6 |
NM_000179.3:c.3052C>T
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
32304999
Circulating tumor DNA predicts response in Chinese patients with relapsed or refractory classical hodgkin lymphoma treated with sintilimab.
EBioMedicine, 2020
|
Supplementary material | |
| MSH6 |
NM_000179.3:c.1729C>A
|
Other Patient-Level Evidence
Low confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
29659569
Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer.
PLoS genetics, 2018
|
Main article and supplement | |