ClinVar Genomic variation as it relates to human health
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)
Variation ID: 90557 Accession: VCV000090557.52
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 2p21 2: 47429830 (GRCh38) [ NCBI UCSC ] 2: 47656969 (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 May 1, 2024 Sep 5, 2013 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000251.3:c.1165C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000242.1:p.Arg389Ter nonsense NM_001258281.1:c.967C>T NP_001245210.1:p.Arg323Ter nonsense NC_000002.12:g.47429830C>T NC_000002.11:g.47656969C>T NG_007110.2:g.31707C>T LRG_218:g.31707C>T LRG_218t1:c.1165C>T LRG_218p1:p.Arg389Ter - Protein change
- R389*, R323*
- Other names
- p.R389*:CGA>TGA
- Canonical SPDI
- NC_000002.12:47429829:C:T
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- loss_of_function_variant Sequence Ontology [SO:0002054]
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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) 0.00000
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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MSH2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
7394 | 7556 |
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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Pathogenic (4) |
reviewed by expert panel
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Sep 5, 2013 | RCV000076052.12 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Feb 20, 2023 | RCV000115494.17 | |
Pathogenic (5) |
criteria provided, multiple submitters, no conflicts
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Jun 7, 2023 | RCV000202008.17 | |
Pathogenic (6) |
criteria provided, multiple submitters, no conflicts
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Oct 5, 2023 | RCV000409481.12 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 24, 2024 | RCV000524332.10 | |
Pathogenic (1) |
criteria provided, single submitter
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Jul 8, 2020 | RCV001332303.2 | |
Pathogenic (1) |
no assertion criteria provided
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- | RCV002255278.3 | |
Pathogenic (1) |
no assertion criteria provided
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- | RCV001353542.3 | |
Pathogenic (1) |
no assertion criteria provided
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Jul 1, 2021 | RCV003162491.2 |
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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Pathogenic
(Sep 05, 2013)
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reviewed by expert panel
Method: research
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Lynch Syndrome
Affected status: unknown
Allele origin:
germline
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International Society for Gastrointestinal Hereditary Tumours (InSiGHT)
Accession: SCV000107065.3
First in ClinVar: Dec 19, 2013 Last updated: Dec 24, 2022
Comment:
Classified with v1.9 guidelines: https://docs.google.com/file/d/0B3JL6rP6JzhoN2EydHRVMEI1UGs
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Comment:
Coding sequence variation introducing a premature termination codon
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Pathogenic
(Jul 08, 2020)
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criteria provided, single submitter
Method: clinical testing
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Mismatch repair cancer syndrome 1
Affected status: yes
Allele origin:
unknown
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Baylor Genetics
Accession: SCV001524572.1
First in ClinVar: Mar 22, 2021 Last updated: Mar 22, 2021 |
Comment:
This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
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Pathogenic
(Aug 21, 2020)
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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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Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000257124.2
First in ClinVar: Nov 20, 2015 Last updated: Jun 08, 2021 |
Comment:
PVS1, PM2, PP5
Number of individuals with the variant: 2
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Pathogenic
(Feb 02, 2016)
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criteria provided, single submitter
Method: clinical testing
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Lynch syndrome 1
Affected status: unknown
Allele origin:
unknown
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Counsyl
Accession: SCV000488244.2
First in ClinVar: Jan 06, 2017 Last updated: Dec 24, 2022 |
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Pathogenic
(Dec 09, 2022)
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criteria provided, single submitter
Method: research
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Lynch syndrome 1
Affected status: no
Allele origin:
germline
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV002762822.2
First in ClinVar: Dec 17, 2022 Last updated: Feb 25, 2023 |
Comment:
PVS1, PS4_STR, PM2_SUP
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Pathogenic
(Mar 25, 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: SCV000149403.17
First in ClinVar: May 17, 2014 Last updated: Apr 09, 2023 |
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed … (more)
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed in individuals with personal and family histories consistent with pathogenic variants in this gene (Beck et al., 1997; Millar et al., 1999; Mangold et al., 2004; Choi et al., 2009; Chong et al., 2009; Bonadona et al., 2011; Chubb et al., 2015); Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; This variant is associated with the following publications: (PMID: 15235030, 25569433, 17453009, 9052445, 25117503, 22883484, 20215533, 10196371, 25525159, 25430799, 26681312, 25559809, 12658575, 27863258, 15849733, 27601186, 25648859, 28874130, 19459153, 19698169, 11920650, 15713769, 21642682, 18566915, 30521064, 29933315, 31054147, 31857677, 31921681, 32489267, 32294063, 31615790, 31332305, 31742824, 34178123, 34148862, 31830689, 36073783) (less)
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Pathogenic
(Mar 23, 2023)
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criteria provided, single submitter
Method: clinical testing
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Lynch syndrome 1
Affected status: unknown
Allele origin:
unknown
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Myriad Genetics, Inc.
Accession: SCV004018410.1
First in ClinVar: Jul 29, 2023 Last updated: Jul 29, 2023 |
Comment:
This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
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Pathogenic
(Oct 05, 2023)
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criteria provided, single submitter
Method: clinical testing
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Lynch syndrome 1
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004196211.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(Jun 07, 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: SCV000601425.4
First in ClinVar: Sep 28, 2017 Last updated: Jan 06, 2024 |
Comment:
This variant causes the premature termination of MSH2 protein synthesis. In the published literature, this variant has been reported in individuals with Lynch syndrome associated … (more)
This variant causes the premature termination of MSH2 protein synthesis. In the published literature, this variant has been reported in individuals with Lynch syndrome associated cancers (PMID: 15235030 (2004), 15849733 (2005), 15855432 (2005), 15713769 (2005), 19459153 (2009), 22883484 (2013), 25117503 (2014), 26681312 (2015), 25648859 (2015), 25430799 (2015), 31054147 (2019)). In a large-scale breast cancer association study, the variant was observed in an individual with breast cancer (PMID: 33471991 (2021), see also LOVD (http://databases.lovd.nl/shared/genes/MSH2)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic. (less)
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Pathogenic
(Jan 24, 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: SCV000253796.12
First in ClinVar: Oct 11, 2015 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Arg389*) in the MSH2 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Arg389*) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Lynch syndrome cancers (PMID: 10196371, 15235030, 19459153, 21642682, 22883484, 25117503). ClinVar contains an entry for this variant (Variation ID: 90557). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Jul 13, 2018)
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criteria provided, single submitter
Method: clinical testing
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Lynch syndrome
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000917712.1
First in ClinVar: Jun 03, 2019 Last updated: Jun 03, 2019 |
Comment:
Variant summary: MSH2 c.1165C>T (p.Arg389X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Variant summary: MSH2 c.1165C>T (p.Arg389X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (eg. c.1189C>T, p.Gln397X; c.1216C>T, p.Arg406X). The variant was absent in 246248 control chromosomes (gnomAD). The variant, c.1165C>T, has been reported in the literature in multiple individuals affected with Lynch Syndrome (Caldes_2002, Chong_2009, Pinol_2005, Casey_2005, Mangold_2005, Mongiat-Artus_2006, Wagner_2003). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Six clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Oct 29, 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: SCV002528817.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022
Comment:
The MSH2 c.1165C>T (p.R389X) variant has been reported in heterozygosity in numerous individuals with Lynch syndrome and Lynch syndrome related cancers (PMID: 15235030, 15713769, 15849733, … (more)
The MSH2 c.1165C>T (p.R389X) variant has been reported in heterozygosity in numerous individuals with Lynch syndrome and Lynch syndrome related cancers (PMID: 15235030, 15713769, 15849733, 19698169, 25117503, 25648859, 26681312, 31054147, 31857677). Tumors found in these patients exhibit loss of MSH2 protein expression (PMID: 15235030, 15713769, 15855432, 31054147). This nonsense variant creates a premature stop codon at residue 389 of the MSH2 protein. At this location, this is predicted to cause nonsense-mediated decay and result in an absent protein (loss of function). Loss of function variants in MSH2 are known to be pathogenic. This variant was not observed in the large and broad cohorts of the Genome Aggregation Database (http://gnomad.broadinstitute.org). The variant has been reported in ClinVar (Variation ID 90557). Based on the current evidence available, this variant is interpreted as pathogenic. (less)
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Lynch syndrome 1
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
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University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM)
Accession: SCV002106383.2
First in ClinVar: Mar 23, 2022 Last updated: Sep 24, 2022 |
Age: 30-39 years
Sex: male
Geographic origin: Algeria
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Pathogenic
(Jul 02, 2018)
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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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Mendelics
Accession: SCV000837828.2
First in ClinVar: Oct 10, 2018 Last updated: Dec 11, 2022 |
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Pathogenic
(Feb 20, 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: SCV000537676.4
First in ClinVar: Sep 24, 2016 Last updated: Feb 14, 2024 |
Comment:
This variant changes 1 nucleotide in exon 7 of the MSH2 gene, creating a premature translation stop signal. This variant is expected to result in … (more)
This variant changes 1 nucleotide in exon 7 of the MSH2 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in multiple individuals affected with Lynch syndrome (PMID: 21642682, 25117503, 25648859, 28874130) and in individuals affected with colorectal cancer, whose tumors showed the absence of MSH2 protein expression and microsatellite instability (PMID: 21868491, 22883484). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of MSH2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
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Pathogenic
(Jan 08, 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: SCV004827220.1
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 variant changes 1 nucleotide in exon 7 of the MSH2 gene, creating a premature translation stop signal. This variant is expected to result in … (more)
This variant changes 1 nucleotide in exon 7 of the MSH2 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in multiple individuals affected with Lynch syndrome (PMID: 21642682, 25117503, 25648859, 28874130) and in individuals affected with colorectal cancer, whose tumors showed the absence of MSH2 protein expression and microsatellite instability (PMID: 21868491, 22883484). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of MSH2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
Number of individuals with the variant: 2
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Pathogenic
(Sep 16, 2021)
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criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000184319.9
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
The p.R389* pathogenic mutation (also known as c.1165C>T), located in coding exon 7 of the MSH2 gene, results from a C to T substitution at … (more)
The p.R389* pathogenic mutation (also known as c.1165C>T), located in coding exon 7 of the MSH2 gene, results from a C to T substitution at nucleotide position 1165. This changes the amino acid from an arginine to a stop codon within coding exon 7. This alteration has been reported in multiple individuals from several populations meeting Amsterdam criteria, with features of Muir-Torre syndrome, or with Lynch-syndrome related tumors with absent MSH2 IHC expression and/or microsatellite instability (Mangold E et al. J. Med. Genet. 2004 Jul;41:567-72; Roupret M et al. J. Med. Genet. 2004 Jul;41(7):e91; Mongiat-Artus P et al. Virchows Arch. 2006 Aug;449:238-43; Skeldon SC et al. Eur. Urol. 2013 Feb;63:379-85; Rosty C et al. Fam. Cancer. 2014 Dec;13:573-82; Therkildsen C et al. Eur. J. Neurol. 2015 Apr;22:717-24; Goldberg Y et al. Clin. Genet. 2015 Jun;87:549-53). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
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Pathogenic
(-)
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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: SCV002037401.1 First in ClinVar: Dec 21, 2021 Last updated: Dec 21, 2021 |
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Pathogenic
(Jul 01, 2021)
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no assertion criteria provided
Method: research
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Gastric cancer
Affected status: unknown
Allele origin:
germline
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Laboratory for Genotyping Development, RIKEN
Accession: SCV002758535.1
First in ClinVar: Apr 15, 2023 Last updated: Apr 15, 2023 |
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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: SCV000592489.2 First in ClinVar: Oct 11, 2015 Last updated: Apr 13, 2021 |
Comment:
The MSH2 p.Arg389X variant was identified in 19 of 8326 proband chromosomes (frequency: 0.0023) from individuals or families with Lynch syndrome (Beck_1997_9052445, Caldes_2002_11920650, Casey_2005_15713769, Choi_2009_19698169, … (more)
The MSH2 p.Arg389X variant was identified in 19 of 8326 proband chromosomes (frequency: 0.0023) from individuals or families with Lynch syndrome (Beck_1997_9052445, Caldes_2002_11920650, Casey_2005_15713769, Choi_2009_19698169, Mangold_2004_15235030, Mangold_2005_15849733, Millar_1999_10196371, Nilbert_2009_18566915, Overbeek_2007_17453009, Wagner_2003_12658575, Walsh_2010_20215533) as well as in one individual with prostate cancer (Rosty_2014_25117503) and one individual with urothelial cancer (Skeldon_2013_22883484). The variant was also identified in dbSNP (ID: rs587779075) as “With Pathogenic allele”, ClinVar (as pathogenic, reviewed by expert panel), Clinvitae (4x as pathogenic), Genesight-COGR (as pathogenic), Cosmic (as pathogenic, seen in colon cancer), UMD-LSDB (22x as causal), Mismatch Repair Genes Variant Database, Insight Hereditary Tumors Database (44x as causal). The variant was not identified in MutDB, Insight Colon Cancer Gene Variant Database, Zhejiang Colon Cancer Database, MMR Gene Unclassified Variants Database. The variant was also identified by our laboratory in 4 individuals with colon cancer. The variant was not identified in the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project or the Exome Aggregation Consortium (August 8th 2016) control databases. The p.Nnn389X variant leads to a premature stop codon at position 389, which is predicted to lead to a truncated or absent protein and loss of function. Loss of function variants of the MSH2 gene are an established mechanism of disease in Lynch syndrome and is the type of variant expected to cause the disorder. In summary, based on the above information this variant meets our laboratory’s criteria to be classified as pathogenic. (less)
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Pathogenic
(-)
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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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Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV002036646.1 First in ClinVar: Dec 18, 2021 Last updated: Dec 18, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Mismatch repair cancer syndrome 2
Affected status: yes
Allele origin:
biparental
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Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
Accession: SCV002526450.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022 |
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not provided
(-)
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no classification provided
Method: literature only
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Lynch syndrome 1
Affected status: unknown
Allele origin:
germline
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GeneReviews
Accession: SCV002054075.2
First in ClinVar: Jan 08, 2022 Last updated: Oct 01, 2022 |
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Germline Functional Evidence
Functional
Help
The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence |
Method
Help
A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter. |
Result
Help
A brief description of the result of this method for 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 functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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loss_of_function_variant
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University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM)
Accession: SCV002106383.2
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Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Helicobacter pylori, Homologous-Recombination Genes, and Gastric Cancer. | Usui Y | The New England journal of medicine | 2023 | PMID: 36988593 |
Germline variants screening of MLH1, MSH2, MSH6 and PMS2 genes in 64 Algerian Lynch syndrome families: The first nationwide study. | Boumehdi AL | Annals of human genetics | 2022 | PMID: 36073783 |
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 |
Lynch Syndrome. | Adam MP | - | 2021 | PMID: 20301390 |
Retained mismatch repair protein expression occurs in approximately 6% of microsatellite instability-high cancers and is associated with missense mutations in mismatch repair genes. | Hechtman JF | Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc | 2020 | PMID: 31857677 |
Screening for hereditary cancers in patients with endometrial cancer reveals a high frequency of germline mutations in cancer predisposition genes. | Tian W | International journal of cancer | 2019 | PMID: 31054147 |
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. | Rossi BM | BMC cancer | 2017 | PMID: 28874130 |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. | Susswein LR | Genetics in medicine : official journal of the American College of Medical Genetics | 2016 | PMID: 26681312 |
Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome. | Therkildsen C | European journal of neurology | 2015 | PMID: 25648859 |
Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics. | Jurgens J | Genetics in medicine : official journal of the American College of Medical Genetics | 2015 | PMID: 25569433 |
Genetic features of Lynch syndrome in the Israeli population. | Goldberg Y | Clinical genetics | 2015 | PMID: 25430799 |
High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry. | Rosty C | Familial cancer | 2014 | PMID: 25117503 |
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. | Thompson BA | Nature genetics | 2014 | PMID: 24362816 |
Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer. | Skeldon SC | European urology | 2013 | PMID: 22883484 |
Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer. | Pérez-Carbonell L | Gut | 2012 | PMID: 21868491 |
Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. | Bonadona V | JAMA | 2011 | PMID: 21642682 |
Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario. | Choi YH | Hereditary cancer in clinical practice | 2009 | PMID: 19698169 |
High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families. | Chong G | Human mutation | 2009 | PMID: 19459153 |
Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutations. | Scott RH | Journal of medical genetics | 2007 | DOI: 10.1136/jmg.2007.048942 |
Spectrum of molecular alterations in colorectal, upper urinary tract, endocervical, and renal carcinomas arising in a patient with hereditary non-polyposis colorectal cancer. | Mongiat-Artus P | Virchows Archiv : an international journal of pathology | 2006 | PMID: 16639607 |
Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. | Piñol V | JAMA | 2005 | PMID: 15855432 |
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. | Mangold E | International journal of cancer | 2005 | PMID: 15849733 |
Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. | Casey G | JAMA | 2005 | PMID: 15713769 |
A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. | Mangold E | Journal of medical genetics | 2004 | PMID: 15235030 |
Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. | Wagner A | American journal of human genetics | 2003 | PMID: 12658575 |
Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain. | Caldes T | International journal of cancer | 2002 | PMID: 11920650 |
Mismatch repair gene defects contribute to the genetic basis of double primary cancers of the colorectum and endometrium. | Millar AL | Human molecular genetics | 1999 | PMID: 10196371 |
http://www.insight-database.org/classifications/index.html?gene=MSH2&variant=c.1165C%3ET | - | - | - | - |
- | - | - | - | DOI: 10.1158/1538-7445.AM2019-655 |
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Text-mined citations for rs587779075 ...
HelpRecord last updated Jul 15, 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.