ClinVar Genomic variation as it relates to human health
NM_000179.3(MSH6):c.3299C>T (p.Thr1100Met)
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(15); Benign(1)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000179.3(MSH6):c.3299C>T (p.Thr1100Met)
Variation ID: 89369 Accession: VCV000089369.49
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 2p16.3 2: 47803546 (GRCh38) [ NCBI UCSC ] 2: 48030685 (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 Apr 20, 2024 Feb 26, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000179.3:c.3299C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000170.1:p.Thr1100Met missense NM_001281492.2:c.2909C>T NP_001268421.1:p.Thr970Met missense NM_001281493.2:c.2393C>T NP_001268422.1:p.Thr798Met missense NM_001281494.2:c.2393C>T NP_001268423.1:p.Thr798Met missense NC_000002.12:g.47803546C>T NC_000002.11:g.48030685C>T NG_007111.1:g.25400C>T LRG_219:g.25400C>T LRG_219t1:c.3299C>T LRG_219p1:p.Thr1100Met P52701:p.Thr1100Met - Protein change
- T1100M, T798M, T970M
- Other names
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- Canonical SPDI
- NC_000002.12:47803545:C:T
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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0.00020 (G)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
Trans-Omics for Precision Medicine (TOPMed) 0.00006
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 |
8944 | 9250 |
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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Uncertain significance (2) |
criteria provided, multiple submitters, no conflicts
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Dec 18, 2023 | RCV000074836.15 | |
Uncertain significance (3) |
criteria provided, multiple submitters, no conflicts
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Apr 5, 2023 | RCV000218926.21 | |
Uncertain significance (4) |
criteria provided, multiple submitters, no conflicts
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Feb 6, 2024 | RCV000223174.26 | |
Benign (1) |
criteria provided, single submitter
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Jan 28, 2024 | RCV000524169.17 | |
Uncertain significance (2) |
criteria provided, multiple submitters, no conflicts
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Sep 21, 2023 | RCV000587747.17 | |
Uncertain significance (1) |
criteria provided, single submitter
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Jul 28, 2016 | RCV000622259.10 | |
Uncertain significance (1) |
criteria provided, single submitter
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Oct 31, 2018 | RCV000764431.10 | |
Uncertain significance (1) |
no assertion criteria provided
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- | RCV001358521.9 | |
Uncertain significance (1) |
criteria provided, single submitter
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Oct 26, 2023 | RCV003460680.1 | |
Uncertain significance (1) |
criteria provided, single submitter
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Feb 26, 2024 | RCV003944986.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Uncertain significance
(Mar 11, 2015)
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criteria provided, single submitter
Method: research
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Lynch syndrome
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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CSER _CC_NCGL, University of Washington
Study: CSER - NEXT Medicine variant annotation
Accession: SCV000212177.1 First in ClinVar: Oct 11, 2015 Last updated: Oct 11, 2015 |
Indication for testing: adults with personal and/or family history of colorectal cancer and/or polyps
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Uncertain significance
(Oct 31, 2018)
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criteria provided, single submitter
Method: clinical testing
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Mismatch repair cancer syndrome 1
Endometrial carcinoma Lynch syndrome 5
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV000895488.1
First in ClinVar: Mar 31, 2019 Last updated: Mar 31, 2019 |
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Uncertain significance
(Jan 25, 2017)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: not provided
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000731376.1
First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
Comment:
The p.Thr1100Met variant in MSH6 has been reported in 2 individuals with suspect ed colorectal cancer or Lynch syndrome (Berends 2002, Yurgelun 2015). This varia … (more)
The p.Thr1100Met variant in MSH6 has been reported in 2 individuals with suspect ed colorectal cancer or Lynch syndrome (Berends 2002, Yurgelun 2015). This varia nt has also been identified in 2/16512 of South Asian chromosomes by the Exome A ggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs63750442). Computational prediction tools and conservation analysis do not provide strong s upport for or against an impact to the protein. In addition, the p.Thr1100Met va riant has been classified as a variant of uncertain significance on Sept 5, 2013 by the ClinGen-approved InSiGHT expert panel (ClinVar SCV000108047.2). In summ ary, the clinical significance of the p.Thr1100Met variant is uncertain. (less)
Number of individuals with the variant: 1
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Uncertain significance
(Sep 23, 2019)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: no
Allele origin:
germline
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Genetic Services Laboratory, University of Chicago
Accession: SCV002070933.1
First in ClinVar: Jan 29, 2022 Last updated: Jan 29, 2022 |
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Uncertain significance
(Jun 04, 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: SCV002528006.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022 |
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Uncertain significance
(Oct 17, 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: SCV001181176.3
First in ClinVar: Mar 16, 2020 Last updated: Nov 29, 2022 |
Comment:
The p.T1100M variant (also known as c.3299C>T), located in coding exon 5 of the MSH6 gene, results from a C to T substitution at nucleotide … (more)
The p.T1100M variant (also known as c.3299C>T), located in coding exon 5 of the MSH6 gene, results from a C to T substitution at nucleotide position 3299. The threonine at codon 1100 is replaced by methionine, an amino acid with similar properties. This alteration has been reported in multiple individuals diagnosed with colorectal cancer (Berends M. et al. Am. J. Hum. Genet. 2002 Jan;70(1):26-37; de Voer RM et al. PLoS Genet., 2016 Feb;12:e1005880). This alteration was also detected in a study of 1,165 individuals with a history of colorectal cancer or colon polyps as well as 590 controls (Gordon AS et al. Am J Hum Genet, 2019 09;105:526-533). Additionally, this alteration was seen in 0/732 breast cancer patients, 1/189 colorectal cancer patients and 0/490 cancer-free elderly controls in a Turkish population (Akcay IM et al. Int J Cancer, 2021 01;148:285-295). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
Number of individuals with the variant: 1
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Uncertain significance
(Jul 28, 2016)
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criteria provided, single submitter
Method: clinical testing
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Inborn genetic diseases
Affected status: yes
Allele origin:
germline
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Ambry Genetics
Accession: SCV000274229.7
First in ClinVar: May 29, 2016 Last updated: Jan 07, 2023 |
Number of individuals with the variant: 1
Clinical Features:
Intellectual disability (present) , Microcephaly (present) , Failure to thrive (present) , Sensorineural hearing loss (present) , Hodgkin lymphoma (present) , Ptosis (present) , Micrognathia … (more)
Intellectual disability (present) , Microcephaly (present) , Failure to thrive (present) , Sensorineural hearing loss (present) , Hodgkin lymphoma (present) , Ptosis (present) , Micrognathia (present) , Verrucae (present) , Global developmental delay (present) , Premature birth (present) (less)
Sex: male
Ethnicity/Population group: Asian/Pakistani
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Uncertain significance
(Oct 26, 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: SCV004197569.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Uncertain significance
(May 03, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001134427.4
First in ClinVar: Jan 05, 2020 Last updated: Jan 06, 2024 |
Comment:
In the published literature, the variant has been reported in individuals with colorectal cancer (PMIDs: 11709755 (2002), 26901136 (2016), 32658311 (2021), 30267214 (2018)), breast cancer … (more)
In the published literature, the variant has been reported in individuals with colorectal cancer (PMIDs: 11709755 (2002), 26901136 (2016), 32658311 (2021), 30267214 (2018)), breast cancer (PMID: 32068069 (2020)) and suspected lynch syndrome (25980754 (2015)). In one family, this variant was found to co-occur with a pathogenic MUTYH variant in 3 individuals with colorectal cancer (PMID: 32615015 (2020)). One functional study demonstrated this variant has a mismatch repair efficiency similar to wildtype MSH6 in vitro (PMID: 32615015 (2020)). The frequency of this variant in the general population, 0.000031 (4/129154 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant. (less)
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Benign
(Jan 28, 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: SCV000254313.12
First in ClinVar: Oct 11, 2015 Last updated: Feb 20, 2024 |
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Uncertain significance
(Feb 26, 2024)
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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: SCV004764327.1
First in ClinVar: Mar 16, 2024 Last updated: Mar 16, 2024 |
Comment:
The MSH6 c.3299C>T variant is predicted to result in the amino acid substitution p.Thr1100Met. This variant has been reported in individuals with Lynch syndrome-associated cancers … (more)
The MSH6 c.3299C>T variant is predicted to result in the amino acid substitution p.Thr1100Met. This variant has been reported in individuals with Lynch syndrome-associated cancers such as colorectal cancers and in controls (Examples: Table 1. Berends et al 2002. PubMed ID: 11709755; Supplemental Table 2. Yurgelun et al 2015. PubMed ID: 25980754; Supplemental Table 2. Rosenthal EA et al 2018. PubMed ID: 30267214; Table S2. Okawa et al 2022. PubMed ID: 36243179). This variant is reported in 0.0080% of alleles in individuals of African descent in gnomAD and is interpreted as uncertain in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/89369/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. (less)
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Uncertain Significance
(Dec 18, 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: SCV004835041.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024 |
Comment:
This missense variant replaces threonine with methionine at codon 1100 of the MSH6 protein. Computational prediction is inconclusive regarding the impact of this variant on … (more)
This missense variant replaces threonine with methionine at codon 1100 of the MSH6 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). A functional study has reported that this variant does not impact in vitro DNA mismatch repair activity (PMID: 32615015). This variant has been reported in individuals affected with Lynch syndrome-associated cancer and/or polyps (PMID: 11709755, 25980754, 26901136, 30267214) and skin melanoma and thyroid cancer (PMID: 2968408). This variant also has been reported to cosegregate with heterozygous pathogenic MUTYH p.Tyr179Cys in three colorectal cancer-affected members of a suspected Lynch syndrome family (PMID: 32615015). This variant has been identified in 12/282832 chromosomes in the general population by the Genome Aggregation Database (gnomAD) and in healthy controls (PMID: 32980694). 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: 21
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Uncertain significance
(Dec 27, 2022)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000695856.2
First in ClinVar: Mar 17, 2018 Last updated: Jan 15, 2023 |
Comment:
Variant summary: MSH6 c.3299C>T (p.Thr1100Met) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging … (more)
Variant summary: MSH6 c.3299C>T (p.Thr1100Met) results in a non-conservative amino acid change in 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 4e-05 in 251432 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in MSH6 causing Hereditary Nonpolyposis Colorectal Cancer (4e-05 vs 0.00014), allowing no conclusion about variant significance. c.3299C>T has been reported in the literature in individuals affected with or suspected to have Hereditary Nonpolyposis Colorectal Cancer, or colorectal cancer or breast cancer (Example: Ackay_2021, Schuber_2020, Berends_2002, deVoer_2016, Kwong_2020). The variant was also reported to cosegregate with heterozygous pathogenic MUTYH p.Tyr179Cys in multiple colorectal cancer-affected members of a suspected Lynch syndrome family (Schuber_2020). These reports do not provide unequivocal conclusions about association of the variant with Hereditary Nonpolyposis Colorectal Cancer. At least one publication reports experimental evidence evaluating an impact on protein function (Schuber_2020). These results showed no damaging effect of this variant. 12 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 uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. (less)
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Uncertain significance
(Sep 21, 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: SCV000279107.12
First in ClinVar: May 29, 2016 Last updated: Sep 30, 2023 |
Comment:
Observed in patients with melanoma, thyroid, colorectal, or other Lynch syndrome-associated cancers, co-segregating with CRC in one family together with a MUTYH pathogenic variant (Berends … (more)
Observed in patients with melanoma, thyroid, colorectal, or other Lynch syndrome-associated cancers, co-segregating with CRC in one family together with a MUTYH pathogenic variant (Berends et al., 2002; Yurgelun et al., 2015; de Voer et al., 2016; Rosenthal et al., 2018; Yehia et al., 2018; Schubert et al., 2020); Published functional studies demonstrate no damaging effect: mismatch repair activity similar to wild-type (Schubert et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25801821, 32615015, 32980694, 25980754, 23621914, 24362816, 26269718, 26901136, 11709755, 35422474, 32658311, 33471991, 29684080, 17531815, 21120944, 30267214, 31422818, 32068069) (less)
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Uncertain significance
(Feb 06, 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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Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV002552336.5
First in ClinVar: Jul 30, 2022 Last updated: Feb 14, 2024 |
|
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Uncertain significance
(Apr 05, 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
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000685385.5
First in ClinVar: Feb 19, 2018 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces threonine with methionine at codon 1100 of the MSH6 protein. Computational prediction is inconclusive regarding the impact of this variant on … (more)
This missense variant replaces threonine with methionine at codon 1100 of the MSH6 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). A functional study has reported that this variant does not impact in vitro DNA mismatch repair activity (PMID: 32615015). This variant has been reported in individuals affected with Lynch syndrome-associated cancer and/or polyps (PMID: 11709755, 25980754, 26901136, 30267214) and skin melanoma and thyroid cancer (PMID: 2968408). This variant also has been reported to cosegregate with heterozygous pathogenic MUTYH p.Tyr179Cys in three colorectal cancer-affected members of a suspected Lynch syndrome family (PMID: 32615015). This variant has been identified in 12/282832 chromosomes in the general population by the Genome Aggregation Database (gnomAD) and in healthy controls (PMID: 32980694). 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
(-)
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no assertion criteria provided
Method: clinical testing
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Malignant tumor of breast
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: SCV001554277.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
The MSH6 p.Thr1100Met variant was identified in 3 of 3262 proband chromosomes (frequency: 0.001) from individuals or families with colorectal cancer (Berends 2002, de Voer … (more)
The MSH6 p.Thr1100Met variant was identified in 3 of 3262 proband chromosomes (frequency: 0.001) from individuals or families with colorectal cancer (Berends 2002, de Voer 2016, Yurgelun 2015). The variant was also identified in dbSNP (ID: rs63750442) as With Uncertain significance allele, ClinVar (classified as uncertain significance by Invitae, Ambry Genetics, GeneDx, Color Genomics, and 5 clinical laboratories), Clinvitae, Cosmic, MutDB, UMD-LSDB (1X classified as uncertain significance), Mismatch Repair Genes Variant Database, and Insight Hereditary Tumors Database (as unclassified variant) databases. The variant was not identified in GeneInsight-COGR, or the Zhejiang Colon Cancer Database. The variant was identified in control databases in 11 of 277180 chromosomes at a frequency of 0.00004 (Genome Aggregation Database Feb 27, 2017). The variant was identified in the following populations: African in 2 of 24038 chromosomes (freq: 0.0001), “Other” in 1 of 6464 chromosomes (freq: 0.0002), European in 5 of 126684 chromosomes (freq: 0.00004), East Asian in 1 of 18868 chromosomes (freq: 0.0001), and South Asian in 2 of 30782 chromosomes (freq: 0.0001), while the variant was not observed in the Latino, Ashkenazi Jewish, or Finnish populations. The p.Thr1100 residue is conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. The variant occurs outside of the splicing consensus sequence and 1 of 5 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predict a greater than 10% difference in splicing; this is not very predictive of pathogenicity. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance. (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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Germline pathogenic variant spectrum in 25 cancer susceptibility genes in Turkish breast and colorectal cancer patients and elderly controls. | Akcay IM | International journal of cancer | 2021 | PMID: 32658311 |
Genetic characterization of pancreatic cancer patients and prediction of carrier status of germline pathogenic variants in cancer-predisposing genes. | Mizukami K | EBioMedicine | 2020 | PMID: 32980694 |
Digenic inheritance of MSH6 and MUTYH variants in familial colorectal cancer. | Schubert SA | Genes, chromosomes & cancer | 2020 | PMID: 32615015 |
Germline Mutation in 1338 BRCA-Negative Chinese Hereditary Breast and/or Ovarian Cancer Patients: Clinical Testing with a Multigene Test Panel. | Kwong A | The Journal of molecular diagnostics : JMD | 2020 | PMID: 32068069 |
Rates of Actionable Genetic Findings in Individuals with Colorectal Cancer or Polyps Ascertained from a Community Medical Setting. | Gordon AS | American journal of human genetics | 2019 | PMID: 31422818 |
Rare loss of function variants in candidate genes and risk of colorectal cancer. | Rosenthal EA | Human genetics | 2018 | PMID: 30267214 |
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations. | Yehia L | PLoS genetics | 2018 | PMID: 29684080 |
Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility. | de Voer RM | PLoS genetics | 2016 | PMID: 26901136 |
Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2. | Niroula A | Human mutation | 2015 | PMID: 26333163 |
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. | Yurgelun MB | Gastroenterology | 2015 | PMID: 25980754 |
Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT): A Hybridization Capture-Based Next-Generation Sequencing Clinical Assay for Solid Tumor Molecular Oncology. | Cheng DT | The Journal of molecular diagnostics : JMD | 2015 | PMID: 25801821 |
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 |
CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein. | Terui H | Journal of biomedical science | 2013 | PMID: 23621914 |
Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant. | Berends MJ | American journal of human genetics | 2002 | PMID: 11709755 |
Subsets of T lymphocytes in peripheral blood of patients with oral lichen planus. | Lin SC | International journal of oral and maxillofacial surgery | 1988 | PMID: 2968408 |
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Text-mined citations for rs63750442 ...
HelpRecord last updated Apr 20, 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.