ClinVar Genomic variation as it relates to human health
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)
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.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)
Variation ID: 183723 Accession: VCV000183723.36
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 2p16.3 2: 47783243 (GRCh38) [ NCBI UCSC ] 2: 48010382 (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 Nov 20, 2015 Feb 14, 2024 Jan 21, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000179.3:c.10C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000170.1:p.Gln4Ter nonsense NM_001281492.2:c.10C>T NP_001268421.1:p.Gln4Ter nonsense NM_001281493.2:c.-727C>T 5 prime UTR NC_000002.12:g.47783243C>T NC_000002.11:g.48010382C>T NG_007111.1:g.5097C>T LRG_219:g.5097C>T LRG_219t1:c.10C>T LRG_219p1:p.Gln4Ter - Protein change
- Q4*
- Other names
- -
- Canonical SPDI
- NC_000002.12:47783242: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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Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
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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MSH6 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 9171 |
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 (3) |
criteria provided, multiple submitters, no conflicts
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Mar 17, 2023 | RCV000162425.18 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Oct 6, 2017 | RCV000199142.22 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Jun 8, 2023 | RCV000202232.23 | |
Pathogenic/Likely pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Mar 28, 2023 | RCV000202528.10 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 21, 2024 | RCV000524100.16 | |
Pathogenic (1) |
no assertion criteria provided
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May 6, 2020 | RCV001254934.9 | |
Pathogenic (1) |
no assertion criteria provided
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- | RCV001353573.8 | |
Pathogenic (1) |
criteria provided, single submitter
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May 19, 2023 | RCV001798562.11 | |
Pathogenic (1) |
criteria provided, single submitter
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Feb 8, 2022 | RCV002478495.8 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 13, 2023 | RCV003398829.4 | |
Pathogenic (1) |
criteria provided, single submitter
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May 24, 2023 | RCV003462113.1 | |
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Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Likely pathogenic
(Nov 01, 2016)
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criteria provided, single submitter
Method: clinical testing
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Lynch syndrome 5
Affected status: yes
Allele origin:
germline
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Center for Human Genetics, Inc, Center for Human Genetics, Inc
Accession: SCV000781779.1
First in ClinVar: Sep 17, 2016 Last updated: Sep 17, 2016 |
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Pathogenic
(Jun 13, 2017)
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criteria provided, single submitter
Method: clinical testing
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Lynch syndrome 5
Affected status: unknown
Allele origin:
unknown
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Counsyl
Accession: SCV000785255.2
First in ClinVar: Sep 17, 2016 Last updated: Sep 17, 2016 |
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Pathogenic
(Oct 06, 2017)
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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: SCV000919725.1
First in ClinVar: Jun 02, 2019 Last updated: Jun 02, 2019 |
Comment:
Variant summary: The MSH6 c.10C>T (p.Gln4X) variant results in a premature termination codon, predicted to cause a truncated or absent MSH6 protein due to nonsense … (more)
Variant summary: The MSH6 c.10C>T (p.Gln4X) variant results in a premature termination codon, predicted to cause a truncated or absent MSH6 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. This variant was found in 5/270892 control chromosomes at a frequency of 0.0000185, which does not exceed the estimated maximal expected allele frequency of a pathogenic MSH6 variant (0.0001421). The variant has been reported to cosegregate in 11 French-Canadian families and was determined to be a founder mutation. One individual was homozygous for the variant and consistent with CMMR-D phenotype (Castellsague_2014). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic. (less)
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Pathogenic
(Mar 01, 2017)
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criteria provided, single submitter
Method: clinical testing
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Lynch syndrome
(Autosomal dominant inheritance)
Affected status: not provided
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000731537.1
First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
Comment:
The p.Gln4X variant in MSH6 has been reported in >10 individuals with MSH6-assoc iated cancers, segregated with disease in at least 4 affected relatives from … (more)
The p.Gln4X variant in MSH6 has been reported in >10 individuals with MSH6-assoc iated cancers, segregated with disease in at least 4 affected relatives from 3 f amilies (Baglietto 2010, Castellsague 2015, Yurgelun 2015), is present in ClinVa r (Variation ID# 183723), and was absent from large population studies. This non sense variant leads to a premature termination codon at position 4, which is pre dicted to lead to a truncated or absent protein. Heterozygous loss of function o f the MSH6 gene is an established disease mechanism in Lynch Syndrome. In summar y, this variant meets criteria to be classified as pathogenic for Lynch Syndrome in an autosomal dominant manner. (less)
Number of individuals with the variant: 1
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Pathogenic
(Jun 01, 2021)
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criteria provided, single submitter
Method: curation
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Sema4, Sema4
Accession: SCV002535590.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022 |
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Pathogenic
(Apr 13, 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: SCV000212772.7
First in ClinVar: Mar 24, 2015 Last updated: Nov 29, 2022 |
Comment:
The p.Q4* pathogenic mutation (also known as c.10C>T), located in coding exon 1 of the MSH6 gene, results from a C to T substitution at … (more)
The p.Q4* pathogenic mutation (also known as c.10C>T), located in coding exon 1 of the MSH6 gene, results from a C to T substitution at nucleotide position 10. This changes the amino acid from a glutamine to a stop codon within coding exon 1. This mutation has been identified in patients with Lynch syndrome or colorectal/endometrial cancers (Baglietto L et al. J. Natl. Cancer Inst. 2010 Feb;102(3):193-201; Shirts BH et al. Genet. Med. 2016 10;18:974-81; Yurgelun MB et al. J. Clin. Oncol. 2017 Apr 1;35(10):1086-1095), and has been described as a founder mutation in the French Canadian population of Quebec (Castellsagué E et al. Clin. Genet. 2015 Jun:87(6):536-42). 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)
Number of individuals with the variant: 1
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Pathogenic
(Feb 08, 2022)
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criteria provided, single submitter
Method: clinical testing
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Endometrial carcinoma
Lynch syndrome 5 Mismatch repair cancer syndrome 3
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV000611207.2
First in ClinVar: Nov 11, 2017 Last updated: Dec 31, 2022 |
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Pathogenic
(May 04, 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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GeneDx
Accession: SCV000279088.12
First in ClinVar: May 29, 2016 Last updated: Mar 04, 2023 |
Comment:
Reported as a founder variant in the French Canadian population (Castellsagu 2014); Observed in homozygous state in individuals with personal histories suspicious for constitutional mismatch … (more)
Reported as a founder variant in the French Canadian population (Castellsagu 2014); Observed in homozygous state in individuals with personal histories suspicious for constitutional mismatch repair deficiency (CMMR-D) syndrome (Castellsague 2014, Perez-Valencia 2020); 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; 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: 28514183, 29485237, 20028993, 25980754, 25345868, 25318681, 22949379, 26845104, 28152038, 28135145, 28125075, 29750335, 30702970, 31604779, 31054147, 30322717, 32773772, 31980526, 31948886, 30787465, 27535533) (less)
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Pathogenic
(Jan 13, 2023)
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criteria provided, single submitter
Method: clinical testing
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MSH6-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004111871.1
First in ClinVar: Nov 20, 2023 Last updated: Nov 20, 2023 |
Comment:
The MSH6 c.10C>T variant is predicted to result in premature protein termination (p.Gln4*). This variant has been reported to be pathogenic for Lynch syndrome (see … (more)
The MSH6 c.10C>T variant is predicted to result in premature protein termination (p.Gln4*). This variant has been reported to be pathogenic for Lynch syndrome (see example: Supplemental Table 1, Yurgelun et al. 2017. PubMed ID: 28135145), and reported as a common Lynch syndrome variant in the French Canadian population of Quebec (Castellsagué et al. 2014. PubMed ID: 25318681). This variant has been identified in individuals with ovarian tumor (Table S1, Carter et al. 2018. PubMed ID: 30322717), prostate cancer (Table S1, Wu et al. 2020. PubMed ID: 31948886), glioblastoma (Yang et al. 2019. PubMed ID: 31604779), endometrial cancer (Table S1, Tian et al. 2019. PubMed ID: 31054147), and in the homozygous state in an individual with constitutional mismatch repair deficiency (Perez-Valencia et al. 2020. PubMed ID: 32773772). This variant has also been interpreted as likely pathogenic and pathogenic in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/variation/183723/). This variant is interpreted as pathogenic. (less)
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Pathogenic
(May 24, 2023)
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criteria provided, single submitter
Method: clinical testing
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Endometrial carcinoma
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004195770.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(Jun 08, 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: SCV001134388.5
First in ClinVar: Jan 05, 2020 Last updated: Jan 06, 2024 |
Comment:
The MSH6 c.10C>T (p.Gln4*) variant causes the premature termination of MSH6 protein synthesis. This variant has been reported in the published literature in as one … (more)
The MSH6 c.10C>T (p.Gln4*) variant causes the premature termination of MSH6 protein synthesis. This variant has been reported in the published literature in as one of the most common pathogenic Lynch Syndrome variants in French Canadian families in Quebec (PMID: 25318681 (2015)). This variant has also been identified in affected individuals with colorectal and lung cancers (PMIDs: 28135145 (2017), 28125075 (2017) and 20028993 (2010)). Based on the available information, this variant is classified as pathogenic. (less)
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Pathogenic
(May 19, 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: SCV002042030.3
First in ClinVar: Jan 01, 2022 Last updated: Feb 04, 2024 |
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Pathogenic
(Jan 21, 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: SCV000253772.13
First in ClinVar: Oct 11, 2015 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Gln4*) in the MSH6 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Gln4*) in the MSH6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). This variant is present in population databases (rs786201042, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with Lynch syndrome (PMID: 20028993, 25318681). It is commonly reported in individuals of French Canadian ancestry (PMID: 20028993, 25318681). ClinVar contains an entry for this variant (Variation ID: 183723). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Mar 17, 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: SCV000685163.4
First in ClinVar: Feb 19, 2018 Last updated: Feb 14, 2024 |
Comment:
This variant changes 1 nucleotide in exon 1 of the MSH6 gene, creating a premature translation stop signal. This variant is expected to result in … (more)
This variant changes 1 nucleotide in exon 1 of the MSH6 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 over 10 individuals and families affected with Lynch syndrome (PMID: 20028993, 25318681), and an individual affected with endometrial cancer (PMID: 26845104). This variant has also been reported homozygous in a 10 year-old individual affected with colorectal cancer, which is consistent constitutional mismatch repair deficiency (PMID: 25318681). This variant has been described as a common founder mutation in the French Canadian population of Quebec (PMID: 25318681). This variant has been identified in 7/275906 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of MSH6 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
(Nov 20, 2015)
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criteria provided, single submitter
Method: clinical testing
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Hereditary nonpolyposis colon cancer
Affected status: yes
Allele origin:
germline
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University of Washington Department of Laboratory Medicine, University of Washington
Accession: SCV000266087.1
First in ClinVar: Mar 20, 2016 Last updated: Mar 20, 2016 |
Number of individuals with the variant: 1
Clinical Features:
endometrial cancer (present)
Age: 50-59 years
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Pathogenic
(Mar 28, 2023)
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criteria provided, single submitter
Method: clinical testing
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Lynch syndrome 5
Affected status: unknown
Allele origin:
unknown
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Myriad Genetics, Inc.
Accession: SCV004018868.1
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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Likely pathogenic
(-)
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no assertion criteria provided
Method: research
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not provided
Affected status: unknown
Allele origin:
unknown
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Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000257203.1
First in ClinVar: Nov 20, 2015 Last updated: Nov 20, 2015 |
Number of individuals with the variant: 1
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Pathogenic
(Jun 01, 2015)
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no assertion criteria provided
Method: literature only
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COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000257496.1
First in ClinVar: Dec 21, 2015 Last updated: Dec 21, 2015 |
Comment on evidence:
In 11 probands of French Canadian descent in the Province of Quebec with hereditary nonpolyposis colorectal cancer, type 5 (HNPCC5; 614350), Castellsague et al. (2015) … (more)
In 11 probands of French Canadian descent in the Province of Quebec with hereditary nonpolyposis colorectal cancer, type 5 (HNPCC5; 614350), Castellsague et al. (2015) identified a heterozygous c.10C-T transition in the MSH6 gene, resulting in a gln4-to-ter (Q4X) substitution. Analysis of 27 additional family members indicated that the mutation cosegregated with cancer in 15 of 23 carriers, consistent with incomplete penetrance. Heterozygous carriers had an average age of cancer diagnosis at 44.2 years; 1 homozygous carrier had onset at age 10 years. Haplotype analysis indicated a founder effect in this population, and the mutation was estimated to have occurred about 513 years ago. The carrier rate in this population was estimated at about 1 in 400. All evaluable tumors showed loss of MSH6 protein and microsatellite instability (MSI); no loss of heterozygosity (LOH) was identified in any of the evaluated tumors, but the authors suggested that the gene was likely inactivated by point mutations or deletions. Among all families, 8 (73%) of 11 affected carrier females had endometrial cancer, suggesting that this is a typical presenting MSH6-related cancer in women. Analysis of this mutation among a larger population-based cohort of French Canadians showed that only 1 of 187 patients with colorectal cancer had the mutation, whereas 7 of 381 patients with endometrial cancer carried the mutation, yielding an odds ratio (OR) of 7.5 (p less than 0.0001). (less)
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Pathogenic
(May 06, 2020)
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no assertion criteria provided
Method: research
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Mismatch repair cancer syndrome 1
Affected status: yes
Allele origin:
germline
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Institute of Human Genetics, Medical University Innsbruck
Accession: SCV001431025.1
First in ClinVar: Sep 05, 2020 Last updated: Sep 05, 2020 |
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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: SCV000592561.2 First in ClinVar: Aug 27, 2017 Last updated: Apr 13, 2021 |
Comment:
The MSH6 p.Gln4* variant was identified in ClinVar (classified as pathogenic by Ambry Genetics, Invitae, GeneDx, and the University of Washington Department of Laboratory Medicine … (more)
The MSH6 p.Gln4* variant was identified in ClinVar (classified as pathogenic by Ambry Genetics, Invitae, GeneDx, and the University of Washington Department of Laboratory Medicine and as likely pathogenic by Mayo Clinic Genetic Testing Laboratories), COSMIC, COGR (classified as pathogenic by a clinical laboratory), and UMD (1x with a causal classification). This variant was identified in the genome Aggregation Database (beta, October 19th 2016) in 5 of 276350 chromosomes (freq. 0.00002). The variant was not found in dbSNP, “Mismatch Repair Genes Variant Database”, “MMR Gene Unclassified Variants Database”, InSiGHT Colon Cancer Gene Variant Database (LOVD), Zhejiang Colon Cancer Database (LOVD), 1000 Genomes Project, the NHLBI GO Exome Sequencing Project or the Exome Aggregation Consortium database. The variant occurs outside of the splicing consensus sequence and 1 of 5 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predict a greater than 10% difference in splicing; this is not very predictive of pathogenicity. The p.Gln4* variant is predicted to lead to a premature stop codon at position 4, which is predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the MSH6 gene are an established mechanism of disease in Lynch syndrome and this is the type of variant expected to cause the disorder. A study by Castellsague (2015) suggests the variant is a novel founder mutation in the French Canadian population. The mutation co-segregated with cancer in 15 of 23 carriers and confers a major risk to develop EC (endometrial cancer). All available tumours from carrier individuals showed MSI and IHC loss of MSH6 protein. In addition, the mutation was found in 16 samples in a control population of 6433 newborns in Quebec (~1/400). The variant was also identified by our laboratory in 2 individuals with endometrial and uterine cancer. In summary, based on the above information, this variant meets our laboratory’s criteria to be classified as pathogenic. (less)
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Oncogenic Mutations in PI3K/AKT/mTOR Pathway Effectors Associate with Worse Prognosis in BRAF(V600E) -Driven Papillary Thyroid Cancer Patients. | Pappa T | Clinical cancer research : an official journal of the American Association for Cancer Research | 2021 | PMID: 34088725 |
Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1. | Perez-Valencia JA | Genetics in medicine : official journal of the American College of Medical Genetics | 2020 | PMID: 32773772 |
MSH6, Past and Present and Muir-Torre Syndrome-Connecting the Dots. | Mahalingam M | The American Journal of dermatopathology | 2017 | PMID: 28323777 |
Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer. | Yurgelun MB | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2017 | PMID: 28135145 |
Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study. | Ghazani AA | Genetics in medicine : official journal of the American College of Medical Genetics | 2017 | PMID: 28125075 |
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 |
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. | Yurgelun MB | Gastroenterology | 2015 | PMID: 25980754 |
Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population. | Castellsagué E | Clinical genetics | 2015 | PMID: 25318681 |
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 |
Risks of Lynch syndrome cancers for MSH6 mutation carriers. | Baglietto L | Journal of the National Cancer Institute | 2010 | PMID: 20028993 |
Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts. | Devlin LA | The Ulster medical journal | 2008 | PMID: 18269114 |
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Text-mined citations for rs786201042 ...
HelpRecord last updated Apr 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.