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Recognized gene
PMS2
Normalized c.HGVS
c.1001T>C, c.1084A>G, c.1164T>A, c.1171G>C, c.1171G>T and 45 more
Normalized p.HGVS
p.(Ala182Thr), p.(Ala423Ser), p.(Arg151His), p.(Arg151Pro), p.(Arg20Pro) and 45 more
Matching records
1797
PM3-positive records
28
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.2404C>G
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with c.123_131delGTTAGTAGA; p.Leu42_Glu44del
context: Confirmed in trans
|
30653781
Biochemical and structural characterization of two variants of uncertain significance in the PMS2 gene.
Human mutation, 2019
|
Main article | |
| PMS2 |
NM_000535.7:c.943C>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.1732 C > T; c.943 C > T; p.Arg315*; +1 more
context: Compound heterozygous candidate
|
41168197
Whole genome sequencing-based analysis of genetic predisposition to adult glioblastoma.
NPJ genomic medicine, 2025
|
Main article | |
| 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.2186_2187del
|
Phase-unconfirmed biallelic evidence
Not assessed
|
Possible compound heterozygous with c.137G>T
context: Compound heterozygous candidate
|
38900223
Misclassification of a frequent variant from PMS2CL pseudogene as a PMS2 loss of function variant in Brazilian patients.
Familial cancer, 2024
|
Main article | |
| PMS2 |
NM_000535.7:c.1732C>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.Arg578 frameshift
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.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.1376C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
35651417
A Constitutional Mismatch Repair Deficiency Syndrome Presented With an Advanced Rectal Cancer in a Juvenile Female: A Case Report and Literature Review.
Cureus, 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.133A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with cA976G
context: Compound heterozygous candidate
|
35117778
Comparison of whole exome sequencing in circulating tumor cells of primitive and metastatic nasopharyngeal carcinoma.
Translational cancer research, 2020
|
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.2249G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.(988 + 1_9891)_(1144 + 1_1145-1)del; p.(Glu330_Glu381del); del
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.943C>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
31507588
Repertoire Sequencing of B Cells Elucidates the Role of UNG and Mismatch Repair Proteins in Somatic Hypermutation in Humans.
Frontiers in immunology, 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.2186_2187del
|
Phase-unconfirmed biallelic evidence
Not assessed
|
Possible compound heterozygous with T728A
context: Compound heterozygous candidate
|
30337059
Clinical Features and Therapeutic Outcomes in Men with Advanced Prostate Cancer and DNA Mismatch Repair Gene Mutations.
European urology, 2019
|
Main article | |
| PMS2 |
NM_000535.7:c.1119T>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
28228131
Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.
BMC medical genomics, 2017
|
Supplementary material | |