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Recognized gene
PMS2
Normalized c.HGVS
c.-1C>T, c.-2C>G, c.-6G>A, c.1001T>C, c.1004A>T and 44 more
Normalized p.HGVS
p.(=), p.(Ala353Glu), p.(Ala353Ser), p.(Ala353Thr), p.(Ala353Val) and 39 more
Matching records
1787
PM3-positive records
10
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 |
|---|---|---|---|---|---|---|
| PMS2 |
NM_000535.7:c.130G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
39334433
PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants.
Hereditary cancer in clinical practice, 2024
|
Main article | |
| PMS2 |
NM_000535.7:c.1732C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with p.Arg578fs; frameshift loss of function mutation
context: Compound heterozygous candidate
|
37603953
Therapeutic HDAC inhibition in hypermutant diffuse intrinsic pontine glioma.
Neoplasia (New York, N.Y.), 2023
|
Main article | |
| PMS2 |
NM_000535.7:c.2167C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
37306523
Investigating the prevalence of pathogenic variants in Saudi Arabian patients with familial cancer using a multigene next generation sequencing panel.
Oncotarget, 2023
|
Supplementary material | |
| PMS2 |
NM_000535.7:c.46A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.58C>T; p.Arg20Trp
context: Compound heterozygous candidate
|
36627197
Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study.
Journal of medical genetics, 2023
|
Main article | |
| PMS2 |
NM_000535.7:c.58C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.335C>T; p.Ser112Leu
context: Compound heterozygous candidate
|
36627197
Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study.
Journal of medical genetics, 2023
|
Main article | |
| PMS2 |
NM_000535.7:c.716T>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.904-2A>C
context: Compound heterozygous candidate
|
36091175
An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes.
Frontiers in oncology, 2022
|
Main article | |
| PMS2 |
NM_000535.7:c.1253C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with L236Sfs*3; L236delinsYLLKKIM; V397I
context: Compound heterozygous candidate
|
34445161
NGS Analysis Confirms Common TP53 and RB1 Mutations, and Suggests MYC Amplification in Ocular Adnexal Sebaceous Carcinomas.
International journal of molecular sciences, 2021
|
Main article | |
| PMS2 |
NM_000535.7:c.161T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1831dup; p.Ile611Asnfs*2
context: Compound heterozygous candidate
|
32642664
Constitutional mismatch repair deficiency-associated brain tumors: report from the European C4CMMRD consortium.
Neuro-oncology advances, 2019
|
Main article | |
| PMS2 |
NM_000535.7:c.868T>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2182_2187delinsGCTC; p.L728Afs*6; delinsGCTC
context: Compound heterozygous candidate
|
31462295
Telomere alterations in neurofibromatosis type 1-associated solid tumors.
Acta neuropathologica communications, 2019
|
Supplementary material | |
| PMS2 |
NM_000535.7:c.904G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with p.S587N
context: Compound heterozygous candidate
|
30833958
Identification of the Germline Mutation Profile in Esophageal Squamous Cell Carcinoma by Whole Exome Sequencing.
Frontiers in genetics, 2019
|
Main article | |
| PMS2 |
NM_000535.7:c.614A>T
|
Other Patient-Level Evidence
Low confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
37296477
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
BMC medical genomics, 2023
|
Main article and supplement | |
| PMS2 |
NM_000535.7:c.1208C>A
|
Other Patient-Level Evidence
Needs review
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
36291559
Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis.
Biomolecules, 2022
|
Main article and supplement | |
| PMS2 |
NM_000535.7:c.145G>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
32957588
Beyond BRCA1 and BRCA2: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers.
Journal of clinical medicine, 2020
|
Main article and supplement | |
| PMS2 |
NM_000535.7:c.1373C>G
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
32547938
Lynch Syndrome Germline Mutations in Breast Cancer: Next Generation Sequencing Case-Control Study of 1,263 Participants.
Frontiers in oncology, 2020
|
Supplementary material | |
| PMS2 |
NM_000535.7:c.1630G>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
32547938
Lynch Syndrome Germline Mutations in Breast Cancer: Next Generation Sequencing Case-Control Study of 1,263 Participants.
Frontiers in oncology, 2020
|
Supplementary material | |
| PMS2 |
NM_000535.7:c.727G>T
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
27978560
Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.
JAMA oncology, 2017
|
Main article | |
| PMS2 |
NM_000535.7:c.944G>T
|
Other Patient-Level Evidence
Needs review
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
25503501
Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.
Genetics in medicine : official journal of the American College of Medical Genetics, 2015
|
Main article and supplement | |
| PMS2 |
NM_000535.7:c.59G>C
|
Other Patient-Level Evidence
Needs review
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
23981578
Two co-existing germline mutations P53 V157D and PMS2 R20Q promote tumorigenesis in a familial cancer syndrome.
Cancer letters, 2014
|
Main article | |
| PMS2 |
NM_000535.7:c.1420G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41899408
A Novel Self-Competitive Fishing Primer qPCR Approach for Efficient POLE Mutation Detection in Endometrial Cancer Molecular Classification.
Current issues in molecular biology, 2026
|
Main article | |
| PMS2 |
NM_000535.7:c.884G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41899408
A Novel Self-Competitive Fishing Primer qPCR Approach for Efficient POLE Mutation Detection in Endometrial Cancer Molecular Classification.
Current issues in molecular biology, 2026
|
Main article | |