ClinVar Genomic variation as it relates to human health
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly)
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(10); Benign(2); Likely 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.2408A>G (p.Asp803Gly)
Variation ID: 89281 Accession: VCV000089281.45
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 2p16.3 2: 47800391 (GRCh38) [ NCBI UCSC ] 2: 48027530 (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 Dec 6, 2014 Sep 16, 2024 Jun 26, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000179.3:c.2408A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000170.1:p.Asp803Gly missense NM_001281492.2:c.2018A>G NP_001268421.1:p.Asp673Gly missense NM_001281493.2:c.1502A>G NP_001268422.1:p.Asp501Gly missense NM_001281494.2:c.1502A>G NP_001268423.1:p.Asp501Gly missense NC_000002.12:g.47800391A>G NC_000002.11:g.48027530A>G NG_007111.1:g.22245A>G LRG_219:g.22245A>G LRG_219t1:c.2408A>G LRG_219p1:p.Asp803Gly P52701:p.Asp803Gly - Protein change
- D803G, D501G, D673G
- Other names
- p.D803G:GAC>GGC
- Canonical SPDI
- NC_000002.12:47800390:A: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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0.00020 (G)
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Allele frequency
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The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00004
Trans-Omics for Precision Medicine (TOPMed) 0.00005
The Genome Aggregation Database (gnomAD), exomes 0.00008
Exome Aggregation Consortium (ExAC) 0.00009
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
1000 Genomes Project 0.00020
1000 Genomes Project 30x 0.00031
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
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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 |
9153 | 9466 |
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 (3) |
criteria provided, multiple submitters, no conflicts
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Feb 1, 2024 | RCV000130124.19 | |
Uncertain significance (1) |
no assertion criteria provided
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Jun 1, 2014 | RCV000148651.4 | |
Conflicting interpretations of pathogenicity (2) |
criteria provided, conflicting classifications
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Nov 15, 2023 | RCV000212666.16 | |
Conflicting interpretations of pathogenicity (3) |
criteria provided, conflicting classifications
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Jun 26, 2024 | RCV000410826.7 | |
Benign (1) |
criteria provided, single submitter
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Jan 16, 2024 | RCV000524143.13 | |
Uncertain significance (2) |
criteria provided, multiple submitters, no conflicts
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Mar 8, 2024 | RCV000586083.13 | |
Uncertain significance (1) |
no assertion criteria provided
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- | RCV001356592.2 | |
Uncertain significance (1) |
criteria provided, single submitter
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Mar 5, 2024 | RCV003466944.2 | |
Uncertain significance (1) |
criteria provided, single submitter
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Dec 13, 2023 | RCV003997077.2 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Uncertain significance
(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: SCV001135819.1
First in ClinVar: Jan 13, 2020 Last updated: Jan 13, 2020 |
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Uncertain Significance
(Dec 13, 2023)
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criteria provided, single submitter
Method: clinical testing
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Lynch syndrome
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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All of Us Research Program, National Institutes of Health
Accession: SCV004834332.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
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Comment:
This missense variant replaces aspartic acid with glycine at codon 803 of the MSH6 protein. Computational prediction is inconclusive regarding the impact of this variant … (more)
This missense variant replaces aspartic acid with glycine at codon 803 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 protein has reduced nucleotide exchange and ATPase activities (PMID: 18790734). This variant has been reported in individuals affected with colorectal, breast, pancreatic cancer or glioblastoma multiforme (PMID: 10537275, 25186627, 25479140, 26689913, 31391288, 31428572, 33471991), as well as in several healthy controls in a breast cancer case-control study (PMID: 33471991). This variant has been identified in 22/282092 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
Number of individuals with the variant: 11
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Uncertain significance
(Feb 01, 2024)
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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: SCV000184956.9
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
The p.D803G variant (also known as c.2408A>G), located in coding exon 4 of the MSH6 gene, results from an A to G substitution at nucleotide … (more)
The p.D803G variant (also known as c.2408A>G), located in coding exon 4 of the MSH6 gene, results from an A to G substitution at nucleotide position 2408. The aspartic acid at codon 803 is replaced by glycine, an amino acid with similar properties. This variant was first reported in a familial CRC kindred and has been shown to reduce the ATP-binding potential of MSH6 (Kolodner RD et al. Cancer Res. 1999 Oct;59:5068-74; Cyr JL and Heinen CD. J. Biol. Chem. 2008 Nov;283:31641-8). This alteration was also identified in an individual diagnosed with colorectal cancer (DeRycke MS et al. Mol Genet Genomic Med, 2017 Sep;5:553-569). This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear. (less)
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Uncertain significance
(Mar 05, 2024)
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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: SCV004197649.2
First in ClinVar: Dec 30, 2023 Last updated: Jun 17, 2024 |
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Uncertain significance
(Aug 12, 2016)
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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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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000539712.1
First in ClinVar: Apr 08, 2017 Last updated: Apr 08, 2017 |
Comment:
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or … (more)
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Classified as VUS by expert panel in 2013; no new evidence supporting pathogenicity since then (less)
Method: Genome/Exome Filtration
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Uncertain significance
(Oct 11, 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: SCV002535734.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022
Comment:
The MSH6 c.2408A>G (p.D803G) variant has been reported in individuals with colorectal cancer, pancreatic cancer, breast cancer, and glioblastoma (PMID: 10537275, 25479140, 25186627, 26689913, 31428572). … (more)
The MSH6 c.2408A>G (p.D803G) variant has been reported in individuals with colorectal cancer, pancreatic cancer, breast cancer, and glioblastoma (PMID: 10537275, 25479140, 25186627, 26689913, 31428572). It was also reported in 7/60466 breast cancer cases and 3/53461 healthy controls by a large case-control study (PMID: 33471991). It was observed in 8/10354 chromosomes of the Ashkenazi Jewish subpopulation in the large and broad cohorts of the Genome Aggregation Database (http://gnomad.broadinstitute.org, PMID: 32461654). The variant has been reported in ClinVar (Variation ID 89281). A functional study demonstrated that the variant affects protein function (PMID: 18790734). The evidence is insufficient to meet ACMG/AMP criteria for classifying the variant as benign or pathogenic. Thus, the clinical significance of this variant is currently uncertain. (less)
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Uncertain significance
(Jan 27, 2016)
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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: SCV000488182.2
First in ClinVar: Jan 06, 2017 Last updated: Dec 24, 2022 |
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Uncertain significance
(Apr 16, 2018)
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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: SCV000888255.3
First in ClinVar: Mar 17, 2018 Last updated: Dec 31, 2022 |
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Uncertain significance
(Apr 20, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV000537593.7
First in ClinVar: Sep 24, 2016 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces aspartic acid with glycine at codon 803 of the MSH6 protein. Computational prediction is inconclusive regarding the impact of this variant … (more)
This missense variant replaces aspartic acid with glycine at codon 803 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 protein has reduced nucleotide exchange and ATPase activities (PMID: 18790734). This variant has been reported in individuals affected with colorectal, breast, pancreatic cancer or glioblastoma multiforme (PMID: 10537275, 25186627, 25479140, 26689913, 31391288, 31428572, 33471991), as well as in several healthy controls in a breast cancer case-control study (PMID: 33471991). This variant has been identified in 22/282092 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
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Benign
(Jan 16, 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: SCV000261326.12
First in ClinVar: Mar 24, 2015 Last updated: Feb 28, 2024 |
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Likely benign
(Nov 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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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000695812.4
First in ClinVar: Mar 17, 2018 Last updated: Jun 09, 2024 |
Comment:
Variant summary: MSH6 c.2408A>G (p.Asp803Gly) results in a non-conservative amino acid change located in the DNA mismatch repair protein MutS, core of the encoded protein … (more)
Variant summary: MSH6 c.2408A>G (p.Asp803Gly) results in a non-conservative amino acid change located in the DNA mismatch repair protein MutS, core of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 5.1e-05 in 1614502 control chromosomes, predominantly at a frequency of 0.00035 within the South Asian subpopulation in the gnomAD database. The observed variant frequency within South Asian control individuals in the gnomAD database is approximately 2 fold of the estimated maximal expected allele frequency for a pathogenic variant in MSH6 causing Hereditary Nonpolyposis Colorectal Cancer phenotype (0.00014), strongly suggesting that the variant is a benign polymorphism found primarily in populations of South Asian origin. c.2408A>G has been reported in the literature in cohorts of individuals affected with various cancers such as the Ontario Pancreas cancer study cohort, the TGCA cohort, breast and colorectal cancer (example, Grant_2015, Kolodner_1999, Tung_2015, Lu_2015, Zhunssova_2019). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Nonpolyposis Colorectal Cancer/Lynch syndrome. A recent study testing MMR pathogenic variant association with MSI/IHC status, and estimated likelihood ratios to compute a tumor characteristic likelihood ratio (TCLR) included this variant. Predictive performance of TCLR in combination with in silico predictors, and a multifactorial variant prediction (MVP) model that included allele frequency, co-occurrence, co-segregation, and clinical and family history information resulted in its classification as likely benign (Li_2020). At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect affect the ability to be cross linked to ATP, suggesting the mutant appears to uncouple the mismatch binding and ATP hydrolysis activities of the MSH2-MSH6 heterodimer (Cyr_2008). However, the in-vivo implications of this finding are unclear. The following publications have been ascertained in the context of this evaluation (PMID: 10537275, 18790734, 22290698, 23621914, 11900875, 25479140, 25186627, 26689913, 19766128, 31428572, 31391288). Eleven submitters have cited clinical-significance assessments for this variant to ClinVar after 2014 and classified as VUS (n=9) and benign/likely benign (n=2). Based on the evidence outlined above, the variant was classified as likely benign. (less)
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Benign
(Jun 26, 2024)
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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: SCV004018972.2
First in ClinVar: Jul 29, 2023 Last updated: Jul 23, 2024 |
Comment:
This variant is considered benign. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants … (more)
This variant is considered benign. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 27363726]. This variant has been observed in trans with a known pathogenic variant in one or more individuals lacking clinical features consistent with gene-specific recessive disease. (less)
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Uncertain significance
(Mar 08, 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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GeneDx
Accession: SCV000211297.18
First in ClinVar: Feb 24, 2015 Last updated: Sep 16, 2024 |
Comment:
In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with colorectal and other cancers (PMID: 10537275, … (more)
In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with colorectal and other cancers (PMID: 10537275, 25479140, 26689913, 25186627, 28944238, 31428572); This variant is associated with the following publications: (PMID: 22788692, 22290698, 25637381, 10537275, 23621914, 19766128, 27363283, 26689913, 11900875, 25479140, 25186627, 26206375, 28944238, 31391288, 34445333, 33471991, 24393486, 31428572, 17531815, 21120944, 36922933, 18790734) (less)
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Uncertain significance
(Jun 01, 2014)
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no assertion criteria provided
Method: research
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Colorectal cancer
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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CSER _CC_NCGL, University of Washington
Study: ESP 6500 variant annotation
Accession: SCV000190366.1 First in ClinVar: Dec 06, 2014 Last updated: Dec 06, 2014
Comment:
Variants classified for the Actionable exomic incidental findings in 6503 participants: challenges of variant classification manuscript
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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: SCV001551804.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
The MSH6 p.Asp803Gly variant was identified in 4 of 13218 proband chromosomes (frequency: 0.0003) from individuals or families with pancreatic cancer, colorectal or breast cancer, … (more)
The MSH6 p.Asp803Gly variant was identified in 4 of 13218 proband chromosomes (frequency: 0.0003) from individuals or families with pancreatic cancer, colorectal or breast cancer, and glioblastoma (Grant 2015, Kolodner 1999, Lu 2015, Tung 2015). The variant was also identified in dbSNP (ID: rs63751450) as "With Uncertain significance allele", ClinVar (classified as uncertain significance by InSight, Ambry Genetics, GeneDx, Invitae, Counsyl, Color Genomics, and four clinical laboratories), Mismatch Repair Genes Variant Database, and in Insight Hereditary Tumors Database (2x as uncertain). The variant was not identified in COGR, Cosmic, MutDB, UMD-LSDB, or Zhejiang University databases. The variant was identified in control databases in 23 of 276376 chromosomes at a frequency of 0.00008 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: Other in 1 of 6458 chromosomes (freq: 0.0002), European in 4 of 125932 chromosomes (freq: 0.00003), Ashkenazi Jewish in 9 of 10136 chromosomes (freq: 0.0009), and South Asian in 9 of 30782 chromosomes (freq: 0.0003), but not in the African, Latino, East Asian, or Finnish populations. The p.Asp803 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 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. 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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Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. | Breast Cancer Association Consortium | The New England journal of medicine | 2021 | PMID: 33471991 |
Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity. | Li S | Journal of medical genetics | 2020 | PMID: 31391288 |
Mutation Spectrum of Cancer-Associated Genes in Patients With Early Onset of Colorectal Cancer. | Zhunussova G | Frontiers in oncology | 2019 | PMID: 31428572 |
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. | DeRycke MS | Molecular genetics & genomic medicine | 2017 | PMID: 28944238 |
Classification of genetic variants in genes associated with Lynch syndrome using a clinical history weighting algorithm. | Morris B | BMC genetics | 2016 | PMID: 27363726 |
Patterns and functional implications of rare germline variants across 12 cancer types. | Lu C | Nature communications | 2015 | PMID: 26689913 |
GESPA: classifying nsSNPs to predict disease association. | Khurana JK | BMC bioinformatics | 2015 | PMID: 26206375 |
Actionable exomic incidental findings in 6503 participants: challenges of variant classification. | Amendola LM | Genome research | 2015 | PMID: 25637381 |
Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer. | Grant RC | Gastroenterology | 2015 | PMID: 25479140 |
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. | Tung N | Cancer | 2015 | PMID: 25186627 |
RNase-mediated protein footprint sequencing reveals protein-binding sites throughout the human transcriptome. | Silverman IM | Genome biology | 2014 | PMID: 24393486 |
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 |
Classification of mismatch repair gene missense variants with PON-MMR. | Ali H | Human mutation | 2012 | PMID: 22290698 |
Genotype to phenotype: analyzing the effects of inherited mutations in colorectal cancer families. | Heinen CD | Mutation research | 2010 | PMID: 19766128 |
Hereditary cancer-associated missense mutations in hMSH6 uncouple ATP hydrolysis from DNA mismatch binding. | Cyr JL | The Journal of biological chemistry | 2008 | PMID: 18790734 |
DNA mismatch repair defects: role in colorectal carcinogenesis. | Jacob S | Biochimie | 2002 | PMID: 11900875 |
Germ-line msh6 mutations in colorectal cancer families. | Kolodner RD | Cancer research | 1999 | PMID: 10537275 |
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Text-mined citations for rs63751450 ...
HelpRecord last updated Oct 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.