ClinVar Genomic variation as it relates to human health
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys)
Variation ID: 89198 Accession: VCV000089198.70
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 2p16.3 2: 47799491 (GRCh38) [ NCBI UCSC ] 2: 48026630 (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 Sep 5, 2013 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000179.3:c.1508C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000170.1:p.Ser503Cys missense NM_001281492.2:c.1118C>G NP_001268421.1:p.Ser373Cys missense NM_001281493.2:c.602C>G NP_001268422.1:p.Ser201Cys missense NM_001281494.2:c.602C>G NP_001268423.1:p.Ser201Cys missense NC_000002.12:g.47799491C>G NC_000002.11:g.48026630C>G NG_007111.1:g.21345C>G LRG_219:g.21345C>G LRG_219t1:c.1508C>G LRG_219p1:p.Ser503Cys P52701:p.Ser503Cys - Protein change
- S201C, S373C
- Other names
- p.S503C:TCC>TGC
- Canonical SPDI
- NC_000002.12:47799490:C:G
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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.
Trans-Omics for Precision Medicine (TOPMed) 0.00054
The Genome Aggregation Database (gnomAD) 0.00059
The Genome Aggregation Database (gnomAD), exomes 0.00062
Exome Aggregation Consortium (ExAC) 0.00063
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00123
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 |
9157 | 9471 |
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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Likely benign (1) |
reviewed by expert panel
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Sep 5, 2013 | RCV000074660.16 | |
Benign/Likely benign (4) |
criteria provided, multiple submitters, no conflicts
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Aug 15, 2023 | RCV000078309.35 | |
Benign/Likely benign (4) |
criteria provided, multiple submitters, no conflicts
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Nov 22, 2022 | RCV000115375.20 | |
Likely benign (1) |
criteria provided, single submitter
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Oct 30, 2014 | RCV000172818.9 | |
Likely benign (3) |
criteria provided, single submitter
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May 28, 2019 | RCV000607345.12 | |
Benign/Likely benign (11) |
criteria provided, multiple submitters, no conflicts
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Apr 1, 2024 | RCV000589037.44 | |
Benign (1) |
criteria provided, single submitter
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Feb 1, 2024 | RCV001079925.16 | |
Likely benign (1) |
no assertion criteria provided
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- | RCV001353430.10 | |
Likely benign (1) |
criteria provided, single submitter
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Feb 23, 2023 | RCV001798251.11 | |
Likely benign (1) |
criteria provided, single submitter
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Mar 1, 2022 | RCV002498355.8 |
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 benign
(Sep 05, 2013)
|
reviewed by expert panel
Method: research
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Lynch Syndrome
Affected status: unknown
Allele origin:
germline
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International Society for Gastrointestinal Hereditary Tumours (InSiGHT)
Accession: SCV000107862.3
First in ClinVar: Dec 19, 2013 Last updated: Dec 24, 2022
Comment:
Classified with v1.9 guidelines: https://docs.google.com/file/d/0B3JL6rP6JzhoN2EydHRVMEI1UGs
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Comment:
Multifactorial likelihood analysis posterior probability 0.001-0.049
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Likely benign
(Oct 30, 2014)
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criteria provided, single submitter
Method: clinical testing
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Lynch syndrome I
Affected status: unknown
Allele origin:
germline
|
Pathway Genomics
Accession: SCV000223784.1
First in ClinVar: Jun 04, 2015 Last updated: Jun 04, 2015 |
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Benign
(Jan 26, 2017)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000695785.1
First in ClinVar: Mar 17, 2018 Last updated: Mar 17, 2018 |
Comment:
Variant summary: The MSH6 c.1508C>G (p.Ser503Cys) variant, located in the DNA mismatch repair protein MutS-like, N-terminal domain (via InterPro), causes a missense change involving a … (more)
Variant summary: The MSH6 c.1508C>G (p.Ser503Cys) variant, located in the DNA mismatch repair protein MutS-like, N-terminal domain (via InterPro), causes a missense change involving a conserved nucleotide and is predicted to be damaging by 4/4 in silico tools (SNPs&GO not captured due to low reliability index). The variant of interest was observed in the large and broad control population of ExAC with an allele frequency of 76/121318 (1/1596), predominantly in the European (Non-Finnish) cohort, 76/66712 (1/877), which exceeds the estimated maximal expected allele frequency for a pathogenic MSH6 variant of 1/7037. Therefore, this is likely a benign polymorphism found primarily in population(s) of European (Non-Finnish) origin. Multiple publications have cited the variant in affected individuals with HNPCC or HNPCC-related cancer with limited information (i.e. there is lack of co-occurrence and cosegregation information), although multiple authors have classified the variant as "benign" and reported presence of MSH6 protein expression in tumors of the CRC patients carrying this variant. In addition, a functional study (Drost_2011) reports the variant to have comparable MMR activity to that of wild-type. Furthermore, multiple clinical diagnostic laboratories/reputable databases have classified this variant as likely benign/benign. Therefore, the variant of interest has been classified as Benign. (less)
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Likely benign
(Jun 21, 2017)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV000805846.1
First in ClinVar: Mar 17, 2018 Last updated: Mar 17, 2018 |
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Likely benign
(May 01, 2017)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: unknown
Allele origin:
germline
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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000604281.2
First in ClinVar: Aug 27, 2017 Last updated: Feb 17, 2019 |
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Likely benign
(Nov 05, 2021)
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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: SCV002070928.1
First in ClinVar: Jan 29, 2022 Last updated: Jan 29, 2022 |
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Likely benign
(Mar 01, 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: SCV002807885.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Likely benign
(Nov 03, 2021)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: not provided
Allele origin:
germline
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Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
Accession: SCV002010117.3
First in ClinVar: Nov 06, 2021 Last updated: Jul 16, 2023 |
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Likely benign
(Aug 15, 2023)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV002552294.4
First in ClinVar: Jul 30, 2022 Last updated: Aug 18, 2023 |
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Likely benign
(Feb 23, 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: SCV002042035.2
First in ClinVar: Jan 03, 2022 Last updated: Feb 04, 2024 |
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Benign
(Feb 01, 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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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000166210.14
First in ClinVar: Jun 15, 2014 Last updated: Feb 14, 2024 |
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Benign
(Sep 15, 2014)
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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: SCV000185775.8
First in ClinVar: Aug 06, 2014 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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Benign
(Oct 29, 2013)
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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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Eurofins Ntd Llc (ga)
Accession: SCV000110150.8
First in ClinVar: Jan 23, 2014 Last updated: May 03, 2018 |
Number of individuals with the variant: 1
Sex: mixed
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Likely benign
(May 28, 2019)
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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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Mendelics
Accession: SCV001135805.1
First in ClinVar: Jan 13, 2020 Last updated: Jan 13, 2020 |
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Benign
(Oct 15, 2020)
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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: SCV002535631.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022 |
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Likely benign
(Nov 22, 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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Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.
Accession: SCV002819239.1
First in ClinVar: Jan 15, 2023 Last updated: Jan 15, 2023 |
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Likely benign
(Mar 19, 2021)
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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: SCV000149284.14
First in ClinVar: May 17, 2014 Last updated: Mar 04, 2023 |
Comment:
This variant is associated with the following publications: (PMID: 22102614, 18566915, 18033691, 24113346, 27028851, 16010685, 20176959, 19924528, 23621914, 22495361, 15340264, 14871975, 18269114, 23047549, 10508506, 28608266, … (more)
This variant is associated with the following publications: (PMID: 22102614, 18566915, 18033691, 24113346, 27028851, 16010685, 20176959, 19924528, 23621914, 22495361, 15340264, 14871975, 18269114, 23047549, 10508506, 28608266, 27273229, 26483394, 22006311) (less)
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Benign
(Jan 01, 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
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000537414.2
First in ClinVar: May 29, 2016 Last updated: Feb 14, 2024 |
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Likely benign
(Apr 01, 2024)
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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: SCV001152291.26
First in ClinVar: Feb 03, 2020 Last updated: Oct 08, 2024 |
Comment:
MSH6: BP1, BS3:Supporting, BS1
Number of individuals with the variant: 5
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Benign
(-)
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no assertion criteria provided
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
unknown
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Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000691927.1
First in ClinVar: Feb 19, 2018 Last updated: Feb 19, 2018 |
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Likely benign
(-)
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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: SCV000592587.2 First in ClinVar: Aug 27, 2017 Last updated: Apr 13, 2021 |
Comment:
The MSH6 p.Ser503Cys variant was identified in 12 of 9676 proband chromosomes (frequency: 0.0012) from Dutch, Korean, Scottish, and Danish individuals or families with hereditary … (more)
The MSH6 p.Ser503Cys variant was identified in 12 of 9676 proband chromosomes (frequency: 0.0012) from Dutch, Korean, Scottish, and Danish individuals or families with hereditary and non-hereditary breast and colon cancer; the variant was present in 3 of 3752 control chromosomes (frequency: 0.001) from healthy individuals (Wijnen 1999, Kim 2004, Barneston 2008, Nilbert 2009, de Jong 2004). The variant was also identified in the following databases: dbSNP (ID: rs63750897) as “With other allele”, ClinVar (9x, as likely benign by Insight, GeneDx, Pathway Genomics, Color Genomics, COGR, ARUP, and Benign by EGL Genetic Diagnostics, Invitae and Ambry Genetics), Clinvitae (4x as likely benign and benign by ClinVar and EmvClass), COGR (as likely benign), UMD-LSDB (6 records, as neutral), Insight Colon Cancer Gene Variant Database (18x, as class 2), Mismatch Repair Genes Variant Database (5x), Insight Hereditary Tumors Database (18x, as likely benign). The variant was not identified in Cosmic, MutDB or the Zhejiang Colon Cancer Database. The variant was identified in control databases in 178 of 276920 chromosomes at a frequency of 0.0006 in the following populations: African in 2 of 24028 chromosomes (freq. 0.00008), other in 2 of 6462 chromosomes (freq. 0.0003), Latino in 2 of 34386 chromosomes (freq. 0.00006), European non-Finnish in 171 of 126466 chromosomes (freq. 0.001), and European Finnish in 1 of 25790 chromosomes (freq. 0.00004), but was not seen in Ashkenazi Jewish, East Asian or South Asian populations (Genome Aggregation Consortium Feb 27, 2017). The p.Ser503Cys residue is conserved in mammals but not in more distantly related organisms, and four out of five computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) suggest that the Cys variant may impact the protein; however, this information is not predictive enough to assume 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. Functional studies on a yeast mutator assay using equivalent mutations at analogous chromosomal positions to assess mismatch repair (MMR) activity, found that the variant showed no significant difference between mutant and wildtype mutation rates (Martinez 2010). An additional functional assay measuring MMR mediated repair of a G-T mismatch engineered plasmid showed the variant to be MMR proficient (Drost 2012). The use of CoDP (Combination of different properties), a bioinformatics tool integrating prediction results of 3 in silico models and 2 structural properties, classified the variant as unlikely to be Lynch syndrome (or a carrier with a nonpathogenic variant), as it demonstrated MSS and showed normal expression of MSH6 (Terui 2013). In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign. (less)
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Likely benign
(-)
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no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
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Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001958064.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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Likely benign
(-)
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no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001975190.1 First in ClinVar: Oct 08, 2021 Last updated: Oct 08, 2021 |
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Likely benign
(-)
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no assertion criteria provided
Method: clinical testing
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Lynch syndrome 5
Affected status: yes
Allele origin:
germline
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Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000734214.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
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Likely benign
(Apr 21, 2016)
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no assertion criteria provided
Method: clinical testing
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Lynch syndrome 5
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, Amsterdam University Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000745650.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
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Likely benign
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Study: VKGL Data-share Consensus
Accession: SCV001798089.1 First in ClinVar: Aug 21, 2021 Last updated: Aug 21, 2021 |
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Likely benign
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics, Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001918015.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021 |
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Likely benign
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001932706.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021 |
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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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Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts. | Buchanan DD | Journal of gastroenterology and hepatology | 2017 | PMID: 27273229 |
Comparative genomic analysis of primary tumors and metastases in breast cancer. | Bertucci F | Oncotarget | 2016 | PMID: 27028851 |
Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients. | Hu C | Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2016 | PMID: 26483394 |
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 |
Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer. | Pal T | British journal of cancer | 2012 | PMID: 23047549 |
MSH6 mutations are frequent in hereditary nonpolyposis colorectal cancer families with normal pMSH6 expression as detected by immunohistochemistry. | Okkels H | Applied immunohistochemistry & molecular morphology : AIMM | 2012 | PMID: 22495361 |
A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. | Drost M | Human mutation | 2012 | PMID: 22102614 |
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. | Walsh T | Proceedings of the National Academy of Sciences of the United States of America | 2011 | PMID: 22006311 |
Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions. | Martinez SL | Proceedings of the National Academy of Sciences of the United States of America | 2010 | PMID: 20176959 |
Association of rare MSH6 variants with familial breast cancer. | Wasielewski M | Breast cancer research and treatment | 2010 | PMID: 19924528 |
Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. | Nilbert M | Familial cancer | 2009 | PMID: 18566915 |
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 |
Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer. | Barnetson RA | Human mutation | 2008 | PMID: 18033691 |
Rapid recognition of aberrant dHPLC elution profiles using the Transgenomic Navigator software. | Colley J | Human mutation | 2005 | PMID: 16010685 |
Genotyping possible polymorphic variants of human mismatch repair genes in healthy Korean individuals and sporadic colorectal cancer patients. | Kim JC | Familial cancer | 2004 | PMID: 15340264 |
Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer. | de Jong AE | Clinical cancer research : an official journal of the American Association for Cancer Research | 2004 | PMID: 14871975 |
Familial endometrial cancer in female carriers of MSH6 germline mutations. | Wijnen J | Nature genetics | 1999 | PMID: 10508506 |
http://evs.gs.washington.edu/EVS/; http://www.umd.be/MSH6/ | - | - | - | - |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=MSH6 | - | - | - | - |
http://www.insight-database.org/classifications/index.html?gene=MSH6&variant=c.1508C%3EG | - | - | - | - |
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Text-mined citations for rs63750897 ...
HelpRecord last updated Oct 13, 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.