ClinVar Genomic variation as it relates to human health
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Uncertain significance(8); Benign(5); Likely benign(3)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000535.7(PMS2):c.620G>A (p.Gly207Glu)
Variation ID: 127793 Accession: VCV000127793.39
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 7p22.1 7: 5999193 (GRCh38) [ NCBI UCSC ] 7: 6038824 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Mar 8, 2017 May 1, 2024 Jan 28, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000535.7:c.620G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000526.2:p.Gly207Glu missense NM_001322003.2:c.215G>A NP_001308932.1:p.Gly72Glu missense NM_001322004.2:c.215G>A NP_001308933.1:p.Gly72Glu missense NM_001322005.2:c.215G>A NP_001308934.1:p.Gly72Glu missense NM_001322006.2:c.620G>A NP_001308935.1:p.Gly207Glu missense NM_001322007.2:c.302G>A NP_001308936.1:p.Gly101Glu missense NM_001322008.2:c.302G>A NP_001308937.1:p.Gly101Glu missense NM_001322009.2:c.215G>A NP_001308938.1:p.Gly72Glu missense NM_001322010.2:c.215G>A NP_001308939.1:p.Gly72Glu missense NM_001322011.2:c.-314G>A 5 prime UTR NM_001322012.2:c.-314G>A 5 prime UTR NM_001322013.2:c.133-1770G>A intron variant NM_001322014.2:c.620G>A NP_001308943.1:p.Gly207Glu missense NM_001322015.2:c.311G>A NP_001308944.1:p.Gly104Glu missense NR_136154.1:n.707G>A non-coding transcript variant NC_000007.14:g.5999193C>T NC_000007.13:g.6038824C>T NG_008466.1:g.14914G>A LRG_161:g.14914G>A LRG_161t1:c.620G>A - Protein change
- G207E, G104E, G72E, G101E
- Other names
- p.G207E:GGA>GAA
- Canonical SPDI
- NC_000007.14:5999192:C:T
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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0.00020 (T)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00013
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
Trans-Omics for Precision Medicine (TOPMed) 0.00015
1000 Genomes Project 30x 0.00016
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00037
Exome Aggregation Consortium (ExAC) 0.00044
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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PMS2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
5155 | 5249 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Conflicting interpretations of pathogenicity (4) |
criteria provided, conflicting classifications
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Jul 7, 2021 | RCV000115699.14 | |
Uncertain significance (1) |
no assertion criteria provided
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- | RCV000123090.8 | |
Uncertain significance (1) |
criteria provided, single submitter
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Jul 1, 2015 | RCV000148736.4 | |
Conflicting interpretations of pathogenicity (4) |
criteria provided, conflicting classifications
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Aug 15, 2023 | RCV000212845.19 | |
Conflicting interpretations of pathogenicity (3) |
criteria provided, conflicting classifications
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Jun 22, 2020 | RCV000757678.16 | |
Benign (1) |
criteria provided, single submitter
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Jan 28, 2024 | RCV001079691.8 | |
Benign (1) |
criteria provided, single submitter
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May 28, 2019 | RCV000987846.2 | |
Uncertain significance (1) |
criteria provided, single submitter
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Dec 23, 2022 | RCV001798337.5 | |
PMS2-related disorder
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Uncertain significance (1) |
criteria provided, single submitter
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Mar 29, 2023 | RCV003407497.4 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Uncertain significance
(Aug 01, 2018)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: yes
Allele origin:
germline
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GeneKor MSA
Accession: SCV000822136.1
First in ClinVar: Oct 10, 2018 Last updated: Oct 10, 2018 |
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Uncertain significance
(Jul 01, 2015)
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criteria provided, single submitter
Method: research
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Colon polyps
Affected status: yes
Allele origin:
germline
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CSER _CC_NCGL, University of Washington
Study: CSER - NEXT Medicine variant annotation
Accession: SCV000190472.2 First in ClinVar: Dec 06, 2014 Last updated: Jan 11, 2019 |
Comment:
Found in patient having exome sequencing due to suspicion for hereditary colon cancer and/or polyps. Patient is a 24 year old female with a personal … (more)
Found in patient having exome sequencing due to suspicion for hereditary colon cancer and/or polyps. Patient is a 24 year old female with a personal history of 11-20 colon polyps and family history of colorectal cancer and/or polyps. This interpretation considers GERP score and allele frequency data, in addition to published reports of the variant in the literature, available at the time of review. (less)
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Uncertain significance
(Dec 13, 2017)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: unknown
Allele origin:
germline
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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000885992.1
First in ClinVar: Feb 18, 2019 Last updated: Feb 18, 2019 |
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Likely benign
(Jun 22, 2020)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000149608.15
First in ClinVar: May 17, 2014 Last updated: Mar 04, 2023 |
Comment:
This variant is associated with the following publications: (PMID: 31992580, 30653781, 31159747, 30651582, 26689913, 29785153, 28975465, 25503501, 19479271, 24027009, 25637381)
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Uncertain significance
(Mar 29, 2023)
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criteria provided, single submitter
Method: clinical testing
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PMS2-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004114903.1
First in ClinVar: Nov 20, 2023 Last updated: Nov 20, 2023 |
Comment:
The PMS2 c.620G>A variant is predicted to result in the amino acid substitution p.Gly207Glu. This variant has been reported in individuals with hereditary nonpolyposis colorectal … (more)
The PMS2 c.620G>A variant is predicted to result in the amino acid substitution p.Gly207Glu. This variant has been reported in individuals with hereditary nonpolyposis colorectal cancer (Montazer Haghighi et al. 2009. PubMed ID: 19479271), breast cancer (Siraj et al. 2017, Table S4. PubMed ID: 28975465) and in at least one individual with no history of cancer (Amendola et al. 2015, Table S1. PubMed ID: 25637381). An in vitro study on this variant showed it still retained DNA mismatch repair (MMR) activity (Drost et al. 2013. PubMed ID: 24027009). This variant is reported in 0.20% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-6038824-C-T) and has conflicting interpretations of benign, likely benign and uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/127793/). Although we suspect that this variant may be benign at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. (less)
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Benign
(Dec 24, 2019)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000601854.4
First in ClinVar: Mar 08, 2017 Last updated: Jan 06, 2024 |
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Uncertain significance
(Dec 23, 2022)
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criteria provided, single submitter
Method: clinical testing
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Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
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CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV002042810.3
First in ClinVar: Jan 01, 2022 Last updated: Feb 04, 2024 |
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Benign
(Jan 28, 2024)
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criteria provided, single submitter
Method: clinical testing
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Hereditary nonpolyposis colorectal neoplasms
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000166390.13
First in ClinVar: Jun 15, 2014 Last updated: Feb 28, 2024 |
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Uncertain significance
(Jan 24, 2017)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000540067.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
Comment:
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or … (more)
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: This variant is classified as DM in HGMD and has been seen in one person with colorectal cancer. It is present in gnomAD at a Max MAF of 0.19% (61/30900 South Asian chrs - too high for disease incidence). It is classified in ClinVar with 1 star as VUS by GeneDx, Ambry, and CSER_CC_NCGL, and as Likely Benign by Invitae. (less)
Method: Genome/Exome Filtration
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Benign
(Jul 07, 2016)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV000910608.1
First in ClinVar: May 20, 2019 Last updated: May 20, 2019 |
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Benign
(May 28, 2019)
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criteria provided, single submitter
Method: clinical testing
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Lynch syndrome 4
Affected status: unknown
Allele origin:
unknown
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Mendelics
Accession: SCV001137320.1
First in ClinVar: Jan 09, 2020 Last updated: Jan 09, 2020 |
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Benign
(Mar 07, 2021)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000697375.3
First in ClinVar: Mar 17, 2018 Last updated: Mar 19, 2021 |
Comment:
Variant summary: PMS2 c.620G>A (p.Gly207Glu) results in a non-conservative amino acid change located in the DNA mismatch repair protein MutL domain of the encoded protein … (more)
Variant summary: PMS2 c.620G>A (p.Gly207Glu) results in a non-conservative amino acid change located in the DNA mismatch repair protein MutL domain of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The nucleotide sequence surrounding this genomic location is unique to PMS2 and not found in the psuedogene, thus identification of this variant in patients and controls is expected to truly be in the PMS2 gene. The variant allele was found at a frequency of 0.00037 in 251990 control chromosomes, predominantly at a frequency of 0.002 within the South Asian subpopulation in the gnomAD database. The observed variant frequency within South Asian control individuals in the gnomAD database is approximately 28 fold of the estimated maximal expected allele frequency for a pathogenic variant in PMS2 causing Hereditary Nonpolyposis Colorectal Cancer phenotype (7.1e-05), strongly suggesting that the variant is a benign polymorphism found primarily in populations of South Asian origin. c.620G>A has been reported in the literature in individuals affected with Lynch Syndrome, Breast/Ovarian Cancers (example, Montazer Haghighi_2009, Maxwell_2014, Warren_2015, Goldescu_2018, Lu_2015, Siraj_2017, Tung_2015). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Nonpolyposis Colorectal Cancer/Lynch syndrome. Co-occurrences with other pathogenic variant(s) have been reported in the literature and observed at our laboratory (Tung_2015, ATM c.1564_1565del , p.Glu522Ilefs*43; our laboratory, BRCA1 c.5266dupC, p.Q1756fs*74; CHEK2 c.1100delC, p.Thr367fs), providing supporting evidence for a benign role. At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in mildly defective in MMR activity (~70% of wild type activity; Drost_2013), with activity significantly higher than the repair deficient control. Eleven clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Multiple laboratories reported the variant with conflicting assessments (Benign, n=4, likely benign, n=1, VUS, n=6). Many submitters cite overlapping evidence utilized in the context of this evaluation. Based on the emerging consensus towards a neutral outcome as evidence outlined above, the variant was classified as benign. (less)
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Uncertain significance
(Apr 24, 2020)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: no
Allele origin:
germline
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Genetic Services Laboratory, University of Chicago
Accession: SCV002072250.1
First in ClinVar: Jan 29, 2022 Last updated: Jan 29, 2022 |
Comment:
DNA sequence analysis of the PMS2 gene demonstrated a sequence change, c.620G>A, in exon 6 that results in an amino acid change, p.Gly207Glu. This sequence … (more)
DNA sequence analysis of the PMS2 gene demonstrated a sequence change, c.620G>A, in exon 6 that results in an amino acid change, p.Gly207Glu. This sequence change has been described in the gnomAD database with a global population frequency of 0.03% and up to a 0.2% frequency in certain subpopulations (dbSNP rs374704824). The p.Gly207Glu change affects a highly conserved amino acid residue located in a domain of the PMS2 protein that is known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Gly207Glu substitution. The p.Gly207Glu change has been reported in a patient with hereditary non-polyposis colorectal cancer and tumor testing showing absence of PMS2 expression and high microsatellite instability (PMID: 19479271). The p.Gly207Glu change has also been reported in a patient with breast cancer (PMID: 25503501). Functional studies using an in vitro assay demonstrated normal mismatch repair activity (PMID: 24027009). Due to these contrasting evidences, the clinical significance of the p.Gly207Glu change remains unknown at this time. (less)
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Likely benign
(Jul 07, 2021)
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criteria provided, single submitter
Method: curation
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Sema4, Sema4
Accession: SCV002530370.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022 |
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Uncertain significance
(Aug 15, 2023)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV004025127.1
First in ClinVar: Aug 19, 2023 Last updated: Aug 19, 2023 |
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Likely benign
(Jul 02, 2018)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000187415.8
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of … (more)
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
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Uncertain significance
(-)
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no assertion criteria provided
Method: clinical testing
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Endometrial carcinoma
Affected status: yes
Allele origin:
unknown
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Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000592927.2 First in ClinVar: Apr 16, 2017 Last updated: Apr 13, 2021 |
Comment:
The PMS2 p.Gly207Glu variant was identified in 1 of 1184 proband chromosome (frequency: 0.0008) from individuals or families with Hereditary Non-Polyposis Colorectal Cancer and was … (more)
The PMS2 p.Gly207Glu variant was identified in 1 of 1184 proband chromosome (frequency: 0.0008) from individuals or families with Hereditary Non-Polyposis Colorectal Cancer and was not identified in 496 control chromosomes from healthy individuals (Montazer Haghighi 2009). In the same publication the patient who carried the p.Gly207Glu variant had a tumor that was negative for PMS2 IHC but was MSI-high suggesting that the variant may have clinical significance (Montazer Haghighi 2009). The variant was also identified in dbSNP (ID: rs374704824 as "With Uncertain significance, other allele"), ClinVar (6x as uncertain significance and 2x as likely benign), Cosmic (as a somatic mutation in squamous cell carcinoma), and Insight Hereditary Tumors Database (as Unknown). The variant was not identified in MutDB, Zhejiang Colon Cancer Database, or Mismatch Repair Genes Variant Database. The variant was identified in control databases in 96 of 277222 chromosomes at a frequency of 0.0003 increasing the likelihood this could be a low frequency benign variant (Genome Aggregation Database Feb 27, 2017). The variant was identified in the following populations: African in 1 of 24032 chromosomes (freq: 0.00004), European Non-Finnish in 33 of 126724 chromosomes (freq: 0.0003), and South Asian in 62 of 30782 chromosomes (freq: 0.002) and was not observed in the Other, Latino, Ashkenazi Jewish, East Asian, or Finnish populations. An in vitro assay showed that a recombinant protein with the p.Gly207Glu variant was positive for MMR activity also suggesting that the variant does not have clinical significance (Drost 2013). The p.Gly207 residue is conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) provide inconsistent predictions regarding the impact to the protein; this information is not reliably predictive of pathogenicity. The variant occurs outside of the splicing consensus sequence and 5 of 5 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In summary, given the conflicting evidence, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance. (less)
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome. | Wang Q | Journal of medical genetics | 2020 | PMID: 31992580 |
Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity. | Li S | Journal of medical genetics | 2020 | PMID: 31391288 |
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations. | Tsaousis GN | BMC cancer | 2019 | PMID: 31159747 |
Biochemical and structural characterization of two variants of uncertain significance in the PMS2 gene. | D'Arcy BM | Human mutation | 2019 | PMID: 30653781 |
Germline mutations in cancer susceptibility genes in high grade serous ovarian cancer in Serbia. | Krivokuca A | Journal of human genetics | 2019 | PMID: 30651582 |
Prevalence of deleterious mutations among patients with breast cancer referred for multigene panel testing in a Romanian population. | Goidescu IG | Clujul medical (1957) | 2018 | PMID: 29785153 |
Expanding the spectrum of germline variants in cancer. | Siraj AK | Human genetics | 2017 | PMID: 28975465 |
Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing. | Mandelker D | JAMA | 2017 | PMID: 28873162 |
Patterns and functional implications of rare germline variants across 12 cancer types. | Lu C | Nature communications | 2015 | PMID: 26689913 |
A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. | Weren RD | Nature genetics | 2015 | PMID: 25938944 |
Actionable exomic incidental findings in 6503 participants: challenges of variant classification. | Amendola LM | Genome research | 2015 | PMID: 25637381 |
Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer. | Maxwell KN | Genetics in medicine : official journal of the American College of Medical Genetics | 2015 | PMID: 25503501 |
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. | Tung N | Cancer | 2015 | PMID: 25186627 |
Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene. | Drost M | Human mutation | 2013 | PMID: 24027009 |
Four novel germline mutations in the MLH1 and PMS2 mismatch repair genes in patients with hereditary nonpolyposis colorectal cancer. | Montazer Haghighi M | International journal of colorectal disease | 2009 | PMID: 19479271 |
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Text-mined citations for rs374704824 ...
HelpRecord last updated May 19, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.