ClinVar Genomic variation as it relates to human health
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln)
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(16); Likely benign(1)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000535.7(PMS2):c.944G>A (p.Arg315Gln)
Variation ID: 184092 Accession: VCV000184092.39
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 7p22.1 7: 5992017 (GRCh38) [ NCBI UCSC ] 7: 6031648 (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 20, 2016 May 1, 2024 Jan 31, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000535.7:c.944G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000526.2:p.Arg315Gln missense NM_001322003.2:c.539G>A NP_001308932.1:p.Arg180Gln missense NM_001322004.2:c.539G>A NP_001308933.1:p.Arg180Gln missense NM_001322005.2:c.539G>A NP_001308934.1:p.Arg180Gln missense NM_001322006.2:c.944G>A NP_001308935.1:p.Arg315Gln missense NM_001322007.2:c.626G>A NP_001308936.1:p.Arg209Gln missense NM_001322008.2:c.626G>A NP_001308937.1:p.Arg209Gln missense NM_001322009.2:c.539G>A NP_001308938.1:p.Arg180Gln missense NM_001322010.2:c.539G>A NP_001308939.1:p.Arg180Gln missense NM_001322011.2:c.11G>A NP_001308940.1:p.Arg4Gln missense NM_001322012.2:c.11G>A NP_001308941.1:p.Arg4Gln missense NM_001322013.2:c.371G>A NP_001308942.1:p.Arg124Gln missense NM_001322014.2:c.944G>A NP_001308943.1:p.Arg315Gln missense NM_001322015.2:c.635G>A NP_001308944.1:p.Arg212Gln missense NR_136154.1:n.1031G>A non-coding transcript variant NC_000007.14:g.5992017C>T NC_000007.13:g.6031648C>T NG_008466.1:g.22090G>A LRG_161:g.22090G>A LRG_161t1:c.944G>A - Protein change
- R315Q, R180Q, R212Q, R4Q, R209Q, R124Q
- Other names
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- Canonical SPDI
- NC_000007.14:5992016: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.
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00006
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
1000 Genomes Project 30x 0.00016
1000 Genomes Project 0.00020
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
Help
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 (2) |
criteria provided, conflicting classifications
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Feb 2, 2023 | RCV000163216.12 | |
Uncertain significance (3) |
criteria provided, multiple submitters, no conflicts
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Dec 13, 2023 | RCV000197131.12 | |
Uncertain significance (4) |
criteria provided, multiple submitters, no conflicts
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Oct 16, 2023 | RCV000412322.9 | |
Uncertain significance (1) |
criteria provided, single submitter
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Jan 31, 2024 | RCV000524485.10 | |
Uncertain significance (3) |
criteria provided, multiple submitters, no conflicts
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Aug 25, 2023 | RCV000679365.9 | |
Uncertain significance (2) |
criteria provided, multiple submitters, no conflicts
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Aug 15, 2023 | RCV000780629.4 | |
Uncertain significance (1) |
criteria provided, single submitter
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Apr 26, 2022 | RCV002492646.2 | |
Uncertain significance (1) |
criteria provided, single submitter
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Mar 28, 2023 | RCV003389705.4 | |
Uncertain significance (1) |
criteria provided, single submitter
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Apr 25, 2023 | RCV003492673.1 |
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
(Apr 26, 2022)
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criteria provided, single submitter
Method: clinical testing
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Lynch syndrome 4
Mismatch repair cancer syndrome 4
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002778550.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 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: SCV002760378.3
First in ClinVar: Dec 17, 2022 Last updated: Aug 18, 2023 |
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Uncertain significance
(Oct 16, 2023)
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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: SCV004205379.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Uncertain significance
(Apr 25, 2023)
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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: SCV004239607.1
First in ClinVar: Feb 04, 2024 Last updated: Feb 04, 2024 |
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Uncertain significance
(Nov 20, 2015)
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criteria provided, single submitter
Method: clinical testing
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Hereditary nonpolyposis colon cancer
Affected status: no
Allele origin:
germline
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University of Washington Department of Laboratory Medicine, University of Washington
Accession: SCV000266222.1
First in ClinVar: Mar 20, 2016 Last updated: Mar 20, 2016 |
Number of individuals with the variant: 1
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Uncertain significance
(Dec 07, 2015)
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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: SCV000487977.2
First in ClinVar: Jan 09, 2017 Last updated: Dec 24, 2022 |
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Uncertain significance
(Mar 15, 2023)
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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: SCV000279135.11
First in ClinVar: May 29, 2016 Last updated: May 13, 2023 |
Comment:
In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified in individuals with breast cancer, sarcoma, or a family … (more)
In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified in individuals with breast cancer, sarcoma, or a family history of ovarian cancer, but also observed in unaffected controls (Maxwell 2015, Shirts 2016, Ballinger 2016, Nikitin 2020, Mizukami 2020); This variant is associated with the following publications: (PMID: 25503501, 26845104, 27498913, 32547938, 32980694, 11574484) (less)
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Uncertain significance
(Mar 28, 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: SCV000806228.2
First in ClinVar: Sep 14, 2018 Last updated: Nov 20, 2023 |
Comment:
The PMS2 c.944G>A variant is predicted to result in the amino acid substitution p.Arg315Gln. This variant has been reported in an individual with early-onset breast … (more)
The PMS2 c.944G>A variant is predicted to result in the amino acid substitution p.Arg315Gln. This variant has been reported in an individual with early-onset breast cancer who also had a deleterious variant in CHEK2 (Table 2, Maxwell et al., 2015. PubMed ID: 25503501), an individual with a history of ovarian cancer (Table S1, Shirts et al., 2016. PubMed ID: 26845104), and an individual with breast cancer (Table S2, Nikitin et al. 2020. PubMed ID: 32547938). It has also been reported in a control from a pancreatic cancer cohort study (Table S6, Mizukami et al. 2020. PubMed ID: 32980694). This variant is reported in 0.0062% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-6031648-C-T) and is interpreted as uncertain in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/184092/). 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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Uncertain significance
(Aug 25, 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: SCV004219037.1
First in ClinVar: Jan 06, 2024 Last updated: Jan 06, 2024 |
Comment:
In the published literature, this variant has been reported in individuals with breast cancer (PMIDs: 32547938 (2020), 33471991 (2021), see also LOVD (http://databases.lovd.nl/shared/genes/PMS2)), including one … (more)
In the published literature, this variant has been reported in individuals with breast cancer (PMIDs: 32547938 (2020), 33471991 (2021), see also LOVD (http://databases.lovd.nl/shared/genes/PMS2)), including one affected individual who co-carried a pathogenic CHEK2 variant (PMID: 25503501 (2015)). This variant has also been observed in an individual with a family history of ovarian cancer (PMID: 26845104 (2016)), and in several unaffected control individuals (PMIDs: 36243179 (2022), 33471991 (2021), 32980694 (2020)). The frequency of this variant in the general population, 0.000035 (4/113696 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 conflicting predictions that this variant is benign or damaging. Based on the available information, we are unable to determine the clinical significance of this variant. (less)
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Uncertain significance
(Jan 31, 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: SCV000254621.12
First in ClinVar: Oct 11, 2015 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 315 of the PMS2 protein (p.Arg315Gln). … (more)
This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 315 of the PMS2 protein (p.Arg315Gln). This variant is present in population databases (rs116314131, gnomAD 0.004%). This missense change has been observed in individual(s) with breast cancer, sarcoma, and/or biliary tract cancer (PMID: 25503501, 27498913, 36243179). ClinVar contains an entry for this variant (Variation ID: 184092). 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%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
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Uncertain significance
(Feb 02, 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: SCV000909664.4
First in ClinVar: May 20, 2019 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces arginine with glutamine at codon 315 of the PMS2 protein. Computational prediction is inconclusive regarding the impact of this variant on … (more)
This missense variant replaces arginine with glutamine at codon 315 of the PMS2 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with sarcoma (PMID: 27498913), an individual affected with uterine cancer with a family history of ovarian cancer (ClinVar RCV000197131.6), and a third individual affected with early-onset breast cancer who also has a pathogenic CHEK2 mutation (PMID: 25503501). This variant also has been reported in an unaffected individual with a family history of ovarian cancer (PMID: 26845104) and in a pancreatic case-control study where it was detected in several unaffected individuals and absent in cancer cases (PMID: 32980694). This variant has been identified in 5/251260 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
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Uncertain Significance
(Dec 13, 2023)
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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: SCV004839875.1
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 arginine with glutamine at codon 315 of the PMS2 protein. Computational prediction is inconclusive regarding the impact of this variant on … (more)
This missense variant replaces arginine with glutamine at codon 315 of the PMS2 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with sarcoma (PMID: 27498913), an individual affected with uterine cancer with a family history of ovarian cancer (ClinVar RCV000197131.6), and a third individual affected with early-onset breast cancer who also has a pathogenic CHEK2 mutation (PMID: 25503501). This variant also has been reported in an unaffected individual with a family history of ovarian cancer (PMID: 26845104) and in a pancreatic case-control study where it was detected in several unaffected individuals and absent in cancer cases (PMID: 32980694). This variant has been identified in 5/251260 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
Number of individuals with the variant: 6
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Uncertain significance
(Oct 01, 2016)
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criteria provided, single submitter
Method: research
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Lynch syndrome
Affected status: yes
Allele origin:
germline
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CSER _CC_NCGL, University of Washington
Study: CSER - NEXT Medicine variant annotation
Accession: SCV000700120.1 First in ClinVar: Mar 23, 2018 Last updated: Mar 23, 2018 |
Comment:
Found in patient having exome sequencing due to suspicion for hereditary colon cancer and/or polyps. Patient is a 66 year old female with uterine cancer … (more)
Found in patient having exome sequencing due to suspicion for hereditary colon cancer and/or polyps. Patient is a 66 year old female with uterine cancer diagnosed at age 56 and a family history of colon cancer. 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
(Jan 12, 2018)
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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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Illumina Laboratory Services, Illumina
Accession: SCV001326416.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. (less)
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Uncertain significance
(Nov 03, 2022)
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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: SCV000918059.2
First in ClinVar: Jun 02, 2019 Last updated: Dec 24, 2022 |
Comment:
Variant summary: PMS2 c.944G>A (p.Arg315Gln) results in a conservative amino acid change located in the DNA mismatch repair protein, S5 domain 2-like of the encoded … (more)
Variant summary: PMS2 c.944G>A (p.Arg315Gln) results in a conservative amino acid change located in the DNA mismatch repair protein, S5 domain 2-like of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 251260 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.944G>A has been reported in the literature in an individual with breast cancer who also carried a pathogenic (CHEK2 c.1283C>T, p.Ser428Phe) variant (Maxwell_2014), as well as in a patient with ovarian cancer (Shirts_2016). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Nonpolyposis Colorectal Cancer. Nine clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and all classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. (less)
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Uncertain significance
(Apr 04, 2023)
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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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Myriad Genetics, Inc.
Accession: SCV004019794.1
First in ClinVar: Jul 29, 2023 Last updated: Jul 29, 2023 |
Comment:
This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.
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Likely benign
(Jan 25, 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
|
Ambry Genetics
Accession: SCV000213739.8
First in ClinVar: Mar 24, 2015 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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not provided
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: SCV001551954.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
The PMS2 p.Arg315Gln variant was identified in 2 of 3480 proband chromosomes (frequency: 0.001) from individuals or families with breast and ovarian cancer (Maxwell 2014, … (more)
The PMS2 p.Arg315Gln variant was identified in 2 of 3480 proband chromosomes (frequency: 0.001) from individuals or families with breast and ovarian cancer (Maxwell 2014, Shirts 2016). The variant was also identified in dbSNP (ID: rs116314131) as “With Uncertain significance allele”, and in ClinVar (classified as uncertain significance by Ambry Genetics, Invitae, GeneDx, Coulsyl and two clinical laboratories). The variant was not identified in COGR, Cosmic, MutDB, Zhejiang Colon Cancer Database, Mismatch Repair Genes Variant Database, or the Insight Hereditary Tumors Database. The variant was identified in control databases in 6 of 277006 chromosomes at a frequency of 0.00002 (Genome Aggregation Database Feb 27, 2017). It was observed in the following populations: African in 1 of 24006 chromosomes (freq: 0.00004), Other in 1 of 6460 chromosomes (freq: 0.0002), and European in 4 of 126670 chromosomes (freq: 0.00003); it was not observed in the Latino, Ashkenazi Jewish, East Asian, Finnish, and South Asian populations. The p.Arg315 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 very predictive of pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In summary, based on the above information, 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)
Number of individuals with the variant: 1
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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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Hereditary cancer variants and homologous recombination deficiency in biliary tract cancer. | Okawa Y | Journal of hepatology | 2023 | PMID: 36243179 |
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. | Breast Cancer Association Consortium | The New England journal of medicine | 2021 | PMID: 33471991 |
Genetic characterization of pancreatic cancer patients and prediction of carrier status of germline pathogenic variants in cancer-predisposing genes. | Mizukami K | EBioMedicine | 2020 | PMID: 32980694 |
Lynch Syndrome Germline Mutations in Breast Cancer: Next Generation Sequencing Case-Control Study of 1,263 Participants. | Nikitin AG | Frontiers in oncology | 2020 | PMID: 32547938 |
Monogenic and polygenic determinants of sarcoma risk: an international genetic study. | Ballinger ML | The Lancet. Oncology | 2016 | PMID: 27498913 |
Improving performance of multigene panels for genomic analysis of cancer predisposition. | Shirts BH | Genetics in medicine : official journal of the American College of Medical Genetics | 2016 | PMID: 26845104 |
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 |
Text-mined citations for rs116314131 ...
HelpRecord last updated May 08, 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.