ClinVar Genomic variation as it relates to human health
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)
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.
Likely pathogenic(8); Uncertain significance(4)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)
Variation ID: 91361 Accession: VCV000091361.32
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 7p22.1 7: 5999199 (GRCh38) [ NCBI UCSC ] 7: 6038830 (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 24, 2015 Jun 17, 2024 Feb 8, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000535.7:c.614A>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000526.2:p.Gln205Pro missense NM_001322003.2:c.209A>C NP_001308932.1:p.Gln70Pro missense NM_001322004.2:c.209A>C NP_001308933.1:p.Gln70Pro missense NM_001322005.2:c.209A>C NP_001308934.1:p.Gln70Pro missense NM_001322006.2:c.614A>C NP_001308935.1:p.Gln205Pro missense NM_001322007.2:c.296A>C NP_001308936.1:p.Gln99Pro missense NM_001322008.2:c.296A>C NP_001308937.1:p.Gln99Pro missense NM_001322009.2:c.209A>C NP_001308938.1:p.Gln70Pro missense NM_001322010.2:c.209A>C NP_001308939.1:p.Gln70Pro missense NM_001322011.2:c.-320A>C 5 prime UTR NM_001322012.2:c.-320A>C 5 prime UTR NM_001322013.2:c.133-1776A>C intron variant NM_001322014.2:c.614A>C NP_001308943.1:p.Gln205Pro missense NM_001322015.2:c.305A>C NP_001308944.1:p.Gln102Pro missense NR_136154.1:n.701A>C non-coding transcript variant NC_000007.14:g.5999199T>G NC_000007.13:g.6038830T>G NG_008466.1:g.14908A>C LRG_161:g.14908A>C LRG_161t1:c.614A>C - Protein change
- Q205P, Q102P, Q70P, Q99P
- Other names
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- Canonical SPDI
- NC_000007.14:5999198:T:G
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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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Allele frequency
Help
The frequency of the allele represented by this VCV record.
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
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 |
5179 | 5279 |
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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Likely pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Sep 13, 2023 | RCV000164809.14 | |
Conflicting interpretations of pathogenicity (3) |
criteria provided, conflicting classifications
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Feb 8, 2024 | RCV000409570.6 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Jan 14, 2024 | RCV000524477.9 | |
Uncertain significance (4) |
criteria provided, multiple submitters, no conflicts
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Aug 3, 2023 | RCV000485945.7 | |
Likely pathogenic (1) |
no assertion criteria provided
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- | RCV001357098.2 | |
Likely pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Jan 6, 2024 | RCV003997191.3 | |
Uncertain significance (1) |
criteria provided, single submitter
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Feb 9, 2022 | RCV003149758.2 |
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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Likely pathogenic
(Nov 03, 2017)
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criteria provided, single submitter
Method: clinical testing
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Lynch syndrome 4
Affected status: unknown
Allele origin:
germline
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Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
Accession: SCV000840046.1
First in ClinVar: Jan 06, 2017 Last updated: Jan 06, 2017 |
Comment:
A heterozygous c.614A>C (p.Q205P) likely pathogenic variant in the PMS2 gene was detected in this individual. This variant has been previously described as disease-causing in … (more)
A heterozygous c.614A>C (p.Q205P) likely pathogenic variant in the PMS2 gene was detected in this individual. This variant has been previously described as disease-causing in mismatch repair cancer syndrome (PMID: 18602922, 25980754), an autosomal recessive cancer predisposition syndrome. In addition, functional studies have indicated that the p.Q205P change alters PMS2 enzymatic function (PMID: 24027009). Therefore, we consider this variant to be likely pathogenic. (less)
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Uncertain significance
(Jun 29, 2021)
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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: SCV000567507.5
First in ClinVar: Apr 29, 2017 Last updated: Apr 17, 2019 |
Comment:
Observed in individuals with a personal or family history of Lynch syndrome-associated tumors (Yurgelun 2015, van der Klift 2016); Published functional studies demonstrate repair efficiency … (more)
Observed in individuals with a personal or family history of Lynch syndrome-associated tumors (Yurgelun 2015, van der Klift 2016); Published functional studies demonstrate repair efficiency significantly higher than that of a pathogenic control but compromised when compared to wild-type (Drost 2013); Reported to co-occur with a PMS2 pathogenic variant in an individual with lymphoma, early-onset colon cancer, and duodenal cancer for whom at least one tumor demonstrated loss of PMS2 expression on immunohistochemistry (Senter 2008); Not observed at significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 20531397, 19283792, 26247049, 18709565, 21376568, 26333163, 27435373, 11574484, 27535533, 31447099, 18602922, 24027009, 25980754) (less)
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Uncertain significance
(Feb 09, 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: SCV003838395.1
First in ClinVar: Mar 11, 2023 Last updated: Mar 11, 2023 |
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Uncertain significance
(Aug 03, 2023)
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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: SCV004219017.1
First in ClinVar: Jan 06, 2024 Last updated: Jan 06, 2024 |
Comment:
In the published literature, this variant has been reported in individuals suspected of Lynch syndrome (PMIDs: 27435373 (2016), 25980754 (2015)). Functional studies showed inconclusive results … (more)
In the published literature, this variant has been reported in individuals suspected of Lynch syndrome (PMIDs: 27435373 (2016), 25980754 (2015)). Functional studies showed inconclusive results regarding the variant's impact on protein function (PMID: 24027009 (2013)). The frequency of this variant in the general population, 0.000008 (2/251496 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, we are unable to determine the clinical significance of this variant. (less)
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Likely pathogenic
(Jan 14, 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: SCV000285143.11
First in ClinVar: Mar 24, 2015 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 205 of the PMS2 protein (p.Gln205Pro). … (more)
This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 205 of the PMS2 protein (p.Gln205Pro). This variant is present in population databases (rs587779342, gnomAD 0.0009%). This missense change has been observed in individual(s) with constitutional mismatch repair deficiency and clinical features of Lynch syndrome (PMID: 18602922, 25980754, 27435373). ClinVar contains an entry for this variant (Variation ID: 91361). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PMS2 protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects PMS2 function (PMID: 2402700). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. (less)
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Likely pathogenic
(Sep 13, 2023)
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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: SCV000691091.5
First in ClinVar: Feb 19, 2018 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces glutamine with proline at codon 205 of the PMS2 protein. Computational prediction suggests that this variant may have deleterious impact on … (more)
This missense variant replaces glutamine with proline at codon 205 of the PMS2 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). A functional study has shown that this variant causes partial reduction in DNA mismatch repair activity of PMS2 protein (PMID: 24027009). This variant has been reported in over ten individuals affected with Lynch syndrome-associated cancers (PMID: 25980754; Clinvar SCV000285143.7, communication with an external laboratory). This variant has also been observed in compound heterozygous state with PMS2 c.1A>G (p.Met1?) in an individual affected with early-onset colon cancer, duodenal cancer, and lymphoma and a family history consistent with constitutional mismatch repair deficiency syndrome (PMID: 18602922). This variant has been identified in 2/251496 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as a Likely Pathogenic. (less)
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Likely Pathogenic
(Jan 06, 2024)
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criteria provided, single submitter
Method: clinical testing
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Lynch syndrome
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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All of Us Research Program, National Institutes of Health
Accession: SCV004839952.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
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Comment:
This missense variant replaces glutamine with proline at codon 205 of the PMS2 protein. Computational prediction suggests that this variant may have deleterious impact on … (more)
This missense variant replaces glutamine with proline at codon 205 of the PMS2 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). A functional study has shown that this variant causes partial reduction in DNA mismatch repair activity of PMS2 protein (PMID: 24027009). This variant has been reported in over ten individuals affected with Lynch syndrome-associated cancers (PMID: 25980754; Clinvar SCV000285143.7, communication with an external laboratory). This variant has also been observed in compound heterozygous state with PMS2 c.1A>G (p.Met1?) in an individual affected with early-onset colon cancer, duodenal cancer, and lymphoma and a family history consistent with constitutional mismatch repair deficiency syndrome (PMID: 18602922). This variant has been identified in 2/251496 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as a Likely Pathogenic. (less)
Number of individuals with the variant: 6
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Likely pathogenic
(Jul 01, 2023)
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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: SCV000215490.8
First in ClinVar: Mar 24, 2015 Last updated: May 01, 2024 |
Comment:
The p.Q205P variant (also known as c.614A>C), located in coding exon 6 of the PMS2 gene, results from an A to C substitution at nucleotide … (more)
The p.Q205P variant (also known as c.614A>C), located in coding exon 6 of the PMS2 gene, results from an A to C substitution at nucleotide position 614. The glutamine at codon 205 is replaced by proline, an amino acid with similar properties. This alteration was detected in trans with a mutation in PMS2 (c.1A>G) in an individual diagnosed with colon cancer at 20 years, duodenal cancer at 41 years, and lymphoma (age at diagnosis was not provided). The proband had a family history of brain tumors diagnosed in two siblings in their 30s and immunohistochemistry demonstrated loss of PMS2 protein expression in both tumor and adjacent normal tissue (Senter L et al. Gastroenterology. 2008 Aug;135(2):419-28). This alteration was also identified once in a cohort of 1260 individuals undergoing panel testing for Lynch syndrome due to a diagnosis of a Lynch-associated cancer and/or polyps (Yurgelun MB et al. Gastroenterology. 2015 Sep;149:604-13.e20). In an in vitro study, this alteration displayed a decrease (~50%) in relative repair efficiency compared to wild type (100%), but was not classified as repair deficient because it had significantly higher repair levels than a known PMS2 mutation (Drost M et al. Hum. Mutat. 2013 Nov; 34(11):1477-80). Based on an internal structural assessment, this alteration may result in generalized destabilization of the ATPase domain near the MSH2/MSH6 binding interface (Guarné A et al. EMBO J. 2001 Oct;20:5521-31; Groothuizen FS et al. Elife. 2015 Jul;4:e06744). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic, but may represent a reduced penetrance allele. (less)
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Likely pathogenic
(Aug 23, 2021)
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criteria provided, single submitter
Method: clinical testing
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Lynch syndrome
Affected status: unknown
Allele origin:
unknown
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Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
Accession: SCV005045771.1
First in ClinVar: Jun 02, 2024 Last updated: Jun 02, 2024 |
Comment:
The c.614A>C (p.Gln205Pro) variant in the PMS2 gene is located on the exon 6 and is predicted to replace glutamine with proline at codon 205 … (more)
The c.614A>C (p.Gln205Pro) variant in the PMS2 gene is located on the exon 6 and is predicted to replace glutamine with proline at codon 205 (p.Gln205Pro). This variant has also been observed in compound heterozygous state with PMS2 c.1A>G (p.Met1?) in an individual affected with early-onset colon cancer, duodenal cancer, and lymphoma and a family history consistent with constitutional mismatch repair deficiency syndrome (PMID: 18602922, 20531397). The variant has also been identified in 2 unrelated individuals with Lynch syndrome (PMID: 25980754, 27435373). Experimental study showed reduction in mismatch repair efficiency and negative functional impact of the variant (PMID: 24027009). The variant has been reported in ClinVar (ID: 91361). The variant is rare in the general population according to gnomAD (2/251496). Computational prediction algorithms suggest a deleterious impact for this variant (REVEL score 0.823). Therefore, the c.614A>C (p.Gln205Pro) variant of PMS2 has been classified as likely pathogenic. (less)
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Likely pathogenic
(Feb 08, 2024)
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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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Baylor Genetics
Accession: SCV004205463.2
First in ClinVar: Dec 30, 2023 Last updated: Jun 17, 2024 |
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Likely pathogenic
(May 01, 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: SCV002530369.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022
Comment:
The PMS2 c.614A>C (p.Q205P) variant has been reported as compound heterozygous in an individual consistent with constitutional mismatch repair deficiency, who was diagnosed with colorectal … (more)
The PMS2 c.614A>C (p.Q205P) variant has been reported as compound heterozygous in an individual consistent with constitutional mismatch repair deficiency, who was diagnosed with colorectal cancer at age 20, duodenal cancer at age 41, and lymphoma (PMID: 18602922). The tumor found in this patient showed loss of PMS2 in both the tumor and normal tissue (PMID: 18602922). Additionally, this variant has been reported in several individuals diagnosed with a Lynch syndrome-related cancer and/or a family history suggestive of Lynch syndrome (PMID: 25980754, 26247049, 31447099, 27435373). Functional studies have shown that this variant exhibits ~50% relative repair efficiency compared to the wildtype protein, however this efficiency is higher than other known PMS2 pathogenic variants used as controls in this study (PMID: 24027009). This variant was observed in 2/113770 chromosomes in the Non-Finnish European population according to the Genome Aggregation Database (http://gnomad.broadinstitute.org, PMID: 32461654). This variant has been reported in ClinVar (Variation ID: 91361). Based on the current evidence available, this variant is interpreted as likely pathogenic. (less)
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Uncertain significance
(Sep 09, 2016)
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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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Counsyl
Accession: SCV000489243.2
First in ClinVar: Jan 06, 2017 Last updated: Dec 24, 2022 |
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Likely pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Carcinoma of colon
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: SCV001552449.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
The PMS2 p.Gln205Pro variant was identified in 3 of 3510 proband chromosomes (frequency: 0.0009) from Dutch, American and multinational individuals or families with Lynch syndrome … (more)
The PMS2 p.Gln205Pro variant was identified in 3 of 3510 proband chromosomes (frequency: 0.0009) from Dutch, American and multinational individuals or families with Lynch syndrome or suspected hereditary cancer (Yurgelun 2015, van der Klift 2016, Senter 2008). The variant was also identified in dbSNP (ID: rs587779342) as “With Uncertain significance” allele, ClinVar and Clinvitae (classified as uncertain significance, reviewed by an expert panel 2013; submitters: uncertain significance by InSIGHT, Ambry Genetics, Counsyl and GeneDx; and likely pathogenic by Invitae 2017), Insight Colon Cancer Gene Variant Database (3x), and Insight Hereditary Tumors Database (3x) and was not identified in Genesight-COGR, Cosmic, Zhejiang Colon Cancer Database, and Mismatch Repair Genes Variant Database. The variant was identified in control databases in 1 of 246270 chromosomes at a frequency of 0.000004 (Genome Aggregation Consortium Feb 27, 2017), being identified in 1 of 111720 European Non-Finnish individuals (frequency: 0000009). Functional assays for splicing and mismatch repair deficiency demonstrated no allele specific imbalance however mismatch repair efficiency was reduced (van der Klift 2016, Drost 2013). In silico analysis using the bioinformatics tool PON-MMR2 that looks at evolutionary conservation and amino acid features, found the variant benign (Niroula 2015). Senter et al (2008) identified the variant as co-occurring with a pathogenic PMS2 variant (c.1A>G, 5’ truncation) in 1 individual diagnosed with CRC at 20 years old, who had 2 siblings with brain cancer. The variants are described as biallelic suggesting that the c.614A>C variant has clinical significance. The p.Gln205 residue is conserved in mammals but not in more distantly related organisms, and four out of five computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) suggest that the Pro variant may impact the protein; however, this information is not predictive enough to assume pathogenicity. The variant occurs outside of the splicing consensus sequence and 1 of 5 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predict a greater than 10% difference in splicing; this is not very predictive of pathogenicity. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more pathogenic role for this variant. This variant is classified as likely pathogenic. (less)
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Uncertain significance
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, Amsterdam University Medical Center
Study: VKGL Data-share Consensus
Accession: SCV001807510.1 First in ClinVar: Aug 25, 2021 Last updated: Aug 25, 2021 |
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Uncertain significance
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001954185.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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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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Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network. | eMERGE Consortium. Electronic address: agibbs@bcm.edu | American journal of human genetics | 2019 | PMID: 31447099 |
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. | van der Klift HM | Human mutation | 2016 | PMID: 27435373 |
Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2. | Niroula A | Human mutation | 2015 | PMID: 26333163 |
Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses. | van der Klift HM | Molecular genetics & genomic medicine | 2015 | PMID: 26247049 |
MutS/MutL crystal structure reveals that the MutS sliding clamp loads MutL onto DNA. | Groothuizen FS | eLife | 2015 | PMID: 26163658 |
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. | Yurgelun MB | Gastroenterology | 2015 | PMID: 25980754 |
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. | Richards S | Genetics in medicine : official journal of the American College of Medical Genetics | 2015 | PMID: 25741868 |
Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene. | Drost M | Human mutation | 2013 | PMID: 24027009 |
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. | Senter L | Gastroenterology | 2008 | PMID: 18602922 |
Structure and function of the N-terminal 40 kDa fragment of human PMS2: a monomeric GHL ATPase. | Guarné A | The EMBO journal | 2001 | PMID: 11574484 |
Lumbar spinal fusion. Assessment of functional stability with magnetic resonance imaging. | Lang P | Spine | 1990 | PMID: 2402700 |
Taurodontism. | Mader CL | Journal of the Hawaii Dental Association | 1978 | PMID: 285143 |
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Text-mined citations for rs587779342 ...
HelpRecord last updated Jun 23, 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.