ClinVar Genomic variation as it relates to human health
NM_000251.3(MSH2):c.2064G>A (p.Met688Ile)
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(14); Benign(1)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000251.3(MSH2):c.2064G>A (p.Met688Ile)
Variation ID: 90875 Accession: VCV000090875.53
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 2p21 2: 47476425 (GRCh38) [ NCBI UCSC ] 2: 47703564 (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 Oct 8, 2024 Feb 19, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000251.3:c.2064G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000242.1:p.Met688Ile missense NM_001258281.1:c.1866G>A NP_001245210.1:p.Met622Ile missense NC_000002.12:g.47476425G>A NC_000002.11:g.47703564G>A NG_007110.2:g.78302G>A LRG_218:g.78302G>A LRG_218t1:c.2064G>A LRG_218p1:p.Met688Ile P43246:p.Met688Ile - Protein change
- M688I, M622I
- Other names
- -
- Canonical SPDI
- NC_000002.12:47476424:G:A
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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 (A)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00003
Exome Aggregation Consortium (ExAC) 0.00004
1000 Genomes Project 30x 0.00016
1000 Genomes Project 0.00020
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
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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MSH2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
7401 | 7563 |
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 9, 2023 | RCV000165796.14 | |
Uncertain significance (6) |
criteria provided, multiple submitters, no conflicts
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Feb 19, 2024 | RCV000410248.12 | |
Uncertain significance (1) |
criteria provided, single submitter
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Dec 6, 2023 | RCV000524376.11 | |
Uncertain significance (1) |
criteria provided, single submitter
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May 1, 2019 | RCV001030713.2 | |
Uncertain significance (1) |
criteria provided, single submitter
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Feb 1, 2024 | RCV001260344.5 | |
Uncertain significance (3) |
criteria provided, multiple submitters, no conflicts
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Sep 29, 2023 | RCV001588898.24 | |
Uncertain significance (1) |
criteria provided, single submitter
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Dec 13, 2023 | RCV003997157.3 |
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
(May 28, 2019)
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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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Mendelics
Accession: SCV001135750.1
First in ClinVar: Jan 13, 2020 Last updated: Jan 13, 2020 |
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Uncertain significance
(Jun 29, 2017)
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criteria provided, single submitter
Method: clinical testing
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Lynch syndrome 1
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV001300493.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. (less)
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Uncertain significance
(Sep 29, 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: SCV001817059.3
First in ClinVar: Sep 08, 2021 Last updated: Nov 25, 2023 |
Comment:
In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Published functional studies are inconclusive: mixed results with respect to … (more)
In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Published functional studies are inconclusive: mixed results with respect to mismatch repair activity, protein stability, and binding ability (Gammie et al., 2007; Wielders et al., 2011; Martin-Lopez et al., 2012; Houlleberghs et al., 2016; Jia et al., 2020); Observed in individuals with colon cancer, gastric cancer, pancreatic, and other cancers, or hereditary non-polyposis colorectal cancer (HNPCC), as well as in healthy controls (Yuan et al., 1998; Nomura et al., 2000; Banno et al., 2004; Kim et al., 2017; Terashima et al., 2022; Scott et al., 2022; Okawa et al., 2023); This variant is associated with the following publications: (PMID: 24933000, 22039344, 29050249, 22949387, 31386297, 22739024, 17720936, 21309037, 9559627, 26951660, 23760103, 26332594, 15365995, 10777691, 23741719, 15527911, 25871441, 30093976, 31396961, 32566746, 33357406, 34570441, 34328007, 26206375, 22179786, 15075785, 14499697, 36135357, 18822302, 21120944, 36550560, 37559881, 36243179) (less)
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Uncertain significance
(Feb 01, 2024)
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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: SCV001437277.3
First in ClinVar: Oct 08, 2020 Last updated: Apr 15, 2024 |
Comment:
Variant summary: MSH2 c.2064G>A (p.Met688Ile) results in a conservative amino acid change located in the C-terminal domain (IPR000432) of the encoded protein sequence. Four of … (more)
Variant summary: MSH2 c.2064G>A (p.Met688Ile) results in a conservative amino acid change located in the C-terminal domain (IPR000432) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4.4e-05 in 252024 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in MSH2 causing Hereditary Nonpolyposis Colorectal Cancer (4.4e-05 vs 0.00057), allowing no conclusion about variant significance. c.2064G>A has been reported in the literature in multiple individuals/families affected with suspected Lynch Syndrome (examples- Yuan_1998, Nomura_2000, Banno_2003, Shin_2004), but has also been reported in unaffected controls (examples- Banno_2004, Olfson_2015). Two large case-control studies evaluating breast cancer genetic risk also reported this variant was not significantly enriched in the case cohorts (Dorling_2021, Okawa_2023). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Nonpolyposis Colorectal Cancer/Lynch syndrome. At-least one co-occurrence with another pathogenic variant(s) has been observed at our laboratory (BRCA2 c.1813delA, p.Ile605Tyrfs), providing supporting evidence for a benign role. Multiple publications report experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in an intermediate mismatch-repair phenotype in a yeast-based assay (Gammie_2007), however most subsequent reports indicate no overall damaging effects of the variant on mismatch repair function and ability to interact with its binding partner MSH6 (examples- Wielders_2010, Martin-Lopez_2012, Houlleberghs_2016, Jia_2021). The following publications have been ascertained in the context of this evaluation (PMID: 14499697, 15527911, 30093976, 33471991, 17720936, 26951660, 33357406, 29050249, 31386297, 22739024, 10777691, 36243179, 26332594, 15365995, 21309037, 9559627, 23760103). ClinVar contains an entry for this variant (Variation ID: 90875). Based on the evidence outlined above, the variant was classified as uncertain significance. (less)
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Benign
(Apr 11, 2022)
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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: SCV000216543.7
First in ClinVar: Mar 24, 2015 Last updated: May 01, 2024 |
Comment:
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation … (more)
This alteration is classified as 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
(Feb 19, 2024)
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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: SCV004196306.2
First in ClinVar: Dec 30, 2023 Last updated: Jun 17, 2024 |
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Uncertain significance
(Feb 01, 2022)
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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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CeGaT Center for Human Genetics Tuebingen
Accession: SCV002496483.17
First in ClinVar: Apr 08, 2022 Last updated: Oct 08, 2024 |
Number of individuals with the variant: 1
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Uncertain significance
(Mar 18, 2016)
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criteria provided, single submitter
Method: reference population
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Lynch syndrome 1
Affected status: unknown
Allele origin:
germline
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Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
Accession: SCV000267401.1
First in ClinVar: Jan 06, 2017 Last updated: Jan 06, 2017 |
Number of individuals with the variant: 2
Age: 40-69 years
Ethnicity/Population group: East Asian
Geographic origin: South Korean
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Uncertain significance
(May 01, 2019)
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criteria provided, single submitter
Method: research
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Hereditary breast and ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
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Cancer Genomics Group, Japanese Foundation For Cancer Research
Accession: SCV001193635.2
First in ClinVar: Apr 06, 2020 Last updated: Apr 06, 2020 |
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Uncertain significance
(Dec 28, 2015)
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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: SCV000488061.2
First in ClinVar: Jan 06, 2017 Last updated: Dec 24, 2022 |
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Uncertain significance
(Mar 22, 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: SCV004018367.1
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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Uncertain significance
(Nov 18, 2022)
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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: SCV004220974.1
First in ClinVar: Jan 06, 2024 Last updated: Jan 06, 2024 |
Comment:
The frequency of this variant in the general population, 0.0021 (8/3814 chromosomes in Korean subpopulation, http://gnomad.broadinstitute.org), is higher than would generally be expected for pathogenic … (more)
The frequency of this variant in the general population, 0.0021 (8/3814 chromosomes in Korean subpopulation, http://gnomad.broadinstitute.org), is higher than would generally be expected for pathogenic variants in this gene. In the published literature, the variant has been reported in individuals with polyps (PMID: 9559627 (1998)), colon cancer (PMID: 10777691 (2000), 23741719 (2013)), endometrial cancer (PMID: 14499697 (2003)), gastric cancer (PMID: 29050249 (2017)), breast cancer (PMID: 30093976 (2018), 33471991 (2021), 34570441 (2021)), and an unspecified cancer (PMID: 31386297 (2019)). Some of these individuals were suspected of hereditary non-polyposis colorectal cancer (HNPCC) (PMID: 9559627 (1998), 10777691 (2000), 14499697 (2003)), and Lynch Syndrome (PMID: 31386297 (2019)). However, this variant has also been reported in unaffected individuals (PMID: 15527911 (2004), 26332594 (2015), 33471991 (2021)). Functional studies of this variant on the effect of MSH2 protein function were inconclusive ((PMID: 17720936 (2007), 21309037 (2011), 22739024 (2012), 26951660 (2016), 33357406 (2021)). 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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Uncertain significance
(Feb 09, 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: SCV000685006.5
First in ClinVar: Feb 19, 2018 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces methionine with isoleucine at codon 688 of the MSH2 protein. Computational prediction suggests that this variant may have deleterious impact on … (more)
This missense variant replaces methionine with isoleucine at codon 688 of the MSH2 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). Splice site prediction tools suggest that this variant may not impact RNA splicing. Experimental functional studies have demonstrated normal to intermediate impact in mismatch repair assays (PMID: 17720936, 21309037, 22739024, 26951660, 33357406) and normal interaction with MSH2, MSH6, and MLH1 (PMID: 21309037). This variant has been reported in individuals affected with colorectal, endometrial cancer (PMID: 9559627, 10777691, 14499697, 15365995), gastric cancer (PMID: 29050249), and esophageal cancer (PMID: 31396961) in the literature, but also in healthy individuals (PMID: 15527911). This variant has been identified in 8/251466 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 06, 2023)
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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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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000548225.10
First in ClinVar: Mar 24, 2015 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 688 of the MSH2 protein (p.Met688Ile). … (more)
This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 688 of the MSH2 protein (p.Met688Ile). This variant is present in population databases (rs63750790, gnomAD 0.05%). This missense change has been observed in individual(s) with clinical features of Lynch syndrome (PMID: 9559627, 10777691, 14499697, 23741719, 30093976, 31386297, 31396961, 36135357). ClinVar contains an entry for this variant (Variation ID: 90875). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 33357406) indicates that this missense variant is not expected to disrupt MSH2 function with a negative predictive value of 80%. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on MSH2 function (PMID: 17720936, 21309037, 22739024, 33357406). This variant disrupts the p.Met688 amino acid residue in MSH2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10080150, 15075785, 20010080, 21225464, 21239990, 22739024). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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
(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: SCV004825272.1
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 methionine with isoleucine at codon 688 of the MSH2 protein. Computational prediction suggests that this variant may have deleterious impact on … (more)
This missense variant replaces methionine with isoleucine at codon 688 of the MSH2 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). Splice site prediction tools suggest that this variant may not impact RNA splicing. Experimental functional studies have demonstrated normal to intermediate impact in mismatch repair assays (PMID: 17720936, 21309037, 22739024, 26951660, 33357406) and normal interaction with MSH2, MSH6, and MLH1 (PMID: 21309037). This variant has been reported in individuals affected with colorectal, endometrial cancer (PMID: 9559627, 10777691, 14499697, 15365995), gastric cancer (PMID: 29050249), and esophageal cancer (PMID: 31396961) in the literature, but also in healthy individuals (PMID: 15527911). This variant has been identified in 8/251466 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: 4
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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 |
Germline variants in cancer-predisposing genes in pancreatic cancer patients with a family history of cancer. | Terashima T | Japanese journal of clinical oncology | 2022 | PMID: 36135357 |
The mutation landscape of multiple cancer predisposition genes in Chinese familial/hereditary breast cancer families. | Dong L | Cancer biology & medicine | 2021 | PMID: 34570441 |
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 |
Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk. | Jia X | American journal of human genetics | 2021 | PMID: 33357406 |
BRCA2 loss-of-function germline mutations are associated with esophageal squamous cell carcinoma risk in Chinese. | Ko JM | International journal of cancer | 2020 | PMID: 31396961 |
Germline mismatch repair gene variants analyzed by universal sequencing in Japanese cancer patients. | Kiyozumi Y | Cancer medicine | 2019 | PMID: 31386297 |
Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers. | Chan GHJ | Oncotarget | 2018 | PMID: 30093976 |
Profiling cancer-associated genetic alterations and molecular classification of cancer in Korean gastric cancer patients. | Kim Y | Oncotarget | 2017 | PMID: 29050249 |
Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants. | Houlleberghs H | Proceedings of the National Academy of Sciences of the United States of America | 2016 | PMID: 26951660 |
Identification of Medically Actionable Secondary Findings in the 1000 Genomes. | Olfson E | PloS one | 2015 | PMID: 26332594 |
GESPA: classifying nsSNPs to predict disease association. | Khurana JK | BMC bioinformatics | 2015 | PMID: 26206375 |
Challenges in assessing pathogenicity based on frequency of variants in mismatch repair genes: an extreme case of a MSH2 variant and a meta-analysis. | Woo HI | Gene | 2014 | PMID: 24933000 |
Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers. | Zhu M | Oncology letters | 2013 | PMID: 23760103 |
Development of a new, simple and cost-effective diagnostic tool for genetic screening of hereditary colorectal cancer--the DNA microarray assay. | Stojcev Z | Acta biochimica Polonica | 2013 | PMID: 23741719 |
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. | Thompson BA | Human mutation | 2013 | PMID: 22949387 |
The hMSH2(M688R) Lynch syndrome mutation may function as a dominant negative. | Martín-López JV | Carcinogenesis | 2012 | PMID: 22739024 |
Mechanism of mismatch recognition revealed by human MutSβ bound to unpaired DNA loops. | Gupta S | Nature structural & molecular biology | 2011 | PMID: 22179786 |
Characterization of MSH2 variants by endogenous gene modification in mouse embryonic stem cells. | Wielders EA | Human mutation | 2011 | PMID: 21309037 |
Integrated analysis of unclassified variants in mismatch repair genes. | Pastrello C | Genetics in medicine : official journal of the American College of Medical Genetics | 2011 | PMID: 21239990 |
Adrenocortical carcinoma, an unusual extracolonic tumor associated with Lynch II syndrome. | Medina-Arana V | Familial cancer | 2011 | PMID: 21225464 |
Genealogical tree study as screening method in the Lynch syndrome prior to genetic test. | Delgado-Plasencia L | American journal of clinical oncology | 2010 | PMID: 20010080 |
Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). | Chao EC | Human mutation | 2008 | PMID: 18383312 |
Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae. | Gammie AE | Genetics | 2007 | PMID: 17720936 |
Met688Ile and Leu390Phe of the MSH2 gene are not functional mutations, but polymorphisms in Japanese individuals. | Banno K | Cancer genetics and cytogenetics | 2004 | PMID: 15527911 |
Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families. | Shin YK | Human mutation | 2004 | PMID: 15365995 |
Tumour spectrum of non-polyposis colorectal cancer (Lynch syndrome) on the island of Tenerife and influence of insularity on the clinical manifestations. | Medina-Arana V | European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) | 2004 | PMID: 15075785 |
Identification of germline MSH2 gene mutations in endometrial cancer not fulfilling the new clinical criteria for hereditary nonpolyposis colorectal cancer. | Banno K | Cancer genetics and cytogenetics | 2003 | PMID: 14499697 |
Enhanced detection of deleterious and other germline mutations of hMSH2 and hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds. | Nomura S | Biochemical and biophysical research communications | 2000 | PMID: 10777691 |
Reduction in hMSH2 mRNA levels by premature translation termination: implications for mutation screening in hereditary nonpolyposis colorectal cancer. | Lin X | Digestive diseases and sciences | 1999 | PMID: 10080150 |
Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer. | Yuan Y | Diseases of the colon and rectum | 1998 | PMID: 9559627 |
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Text-mined citations for rs63750790 ...
HelpRecord last updated Oct 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.