ClinVar Genomic variation as it relates to human health
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)
Variation ID: 89245 Accession: VCV000089245.38
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 2p16.3 2: 47800040 (GRCh38) [ NCBI UCSC ] 2: 48027179 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 Jun 17, 2024 Jun 21, 2019 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_000179.3:c.2057G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000170.1:p.Gly686Asp missense NM_001281492.2:c.1667G>A NP_001268421.1:p.Gly556Asp missense NM_001281493.2:c.1151G>A NP_001268422.1:p.Gly384Asp missense NM_001281494.2:c.1151G>A NP_001268423.1:p.Gly384Asp missense NC_000002.12:g.47800040G>A NC_000002.11:g.48027179G>A NG_007111.1:g.21894G>A LRG_219:g.21894G>A LRG_219t1:c.2057G>A LRG_219p1:p.Gly686Asp - Protein change
- G686D, G384D, G556D
- Other names
- p.G686D:GGT>GAT
- Canonical SPDI
- NC_000002.12:47800039:G:A
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
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.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
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 | ||
---|---|---|---|---|---|---|
HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
MSH6 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
9148 | 9458 |
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. |
---|---|---|---|---|
Likely pathogenic (2) |
reviewed by expert panel
|
Jun 21, 2019 | RCV000074709.9 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Sep 5, 2023 | RCV000128865.13 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
|
Apr 27, 2023 | RCV000212657.14 | |
Pathogenic (1) |
criteria provided, single submitter
|
Jan 28, 2024 | RCV000524130.8 | |
Pathogenic/Likely pathogenic (3) |
criteria provided, multiple submitters, no conflicts
|
Mar 29, 2023 | RCV000576301.4 | |
Likely pathogenic (2) |
criteria provided, single submitter
|
Dec 17, 2023 | RCV001353773.4 | |
Pathogenic (1) |
criteria provided, single submitter
|
Jun 3, 2021 | RCV001526863.1 | |
Uncertain significance (1) |
no assertion criteria provided
|
- | RCV000583928.5 |
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. |
|
---|---|---|---|---|---|
Likely pathogenic
(Jun 21, 2019)
|
reviewed by expert panel
Method: curation
|
Lynch syndrome
Affected status: yes
Allele origin:
germline
|
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)
Accession: SCV000107916.3
First in ClinVar: Dec 19, 2013 Last updated: Oct 01, 2019 |
Comment:
Multifactorial likelihood analysis posterior probability 0.95-0.99
|
|
Pathogenic
(Jun 03, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary nonpolyposis colon cancer
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000917787.2
First in ClinVar: Jun 03, 2019 Last updated: Jun 22, 2021 |
Comment:
Variant summary: MSH6 c.2057G>A (p.Gly686Asp) results in a non-conservative amino acid change located in the connector domain (IPR007860) of the encoded protein sequence. Five of … (more)
Variant summary: MSH6 c.2057G>A (p.Gly686Asp) results in a non-conservative amino acid change located in the connector domain (IPR007860) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251270 control chromosomes (gnomAD). c.2057G>A has been reported in the literature in multiple individuals affected with colorectal cancer (Hampel _2008, Thompson_ 2013, Chubb_2015, DeRycke_2017, Buchanan_2016), in patients with a history of LS-associated cancer and/or colorectal polyps (Yurgelun_2015, Li_2020) endometrial (Goodfellow_2015) and breast cancer (Susswein 2016). Tumor samples showed microsatellite instability in several cases (Chubb_2015, Buchanan_2016, Goodfellow_2015). These data indicate that the variant may be associated with disease. In addition, a multifactorial likelihood analysis classified this MSH6 variant as likely pathogenic (Thompson_2014). A recent functional study demonstrated reduced MMR activity for the variant compared to wild type (Drost_2020). Six other ClinVar submitters (evaluation after 2014) cite the variant as likely pathogenic (n=4) and pathogenic (n=2). Based on the evidence outlined above, the variant was classified as pathogenic. (less)
|
|
Pathogenic
(Nov 04, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000601526.4
First in ClinVar: Jan 07, 2017 Last updated: Jan 06, 2024 |
Comment:
The frequency of this variant in the general population, 0.000013 (2/152172 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. In the published literature, the … (more)
The frequency of this variant in the general population, 0.000013 (2/152172 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. In the published literature, the variant has been reported in individuals with In the published literature, the variant has been reported in individuals with Lynch Syndrome or a Lynch Syndrome associated phenotype (PMID: 28944238 (2017), PMID: 28514183 (2017), PMID: 26552419 (2015), PMID: 25980754 (2015), PMID: 25559809 (2015), PMID: 18809606 (2008)). Additionally, this variant was found to abrogate MMR activity in vitro (PMID: 28531214 (2017)). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, this variant is classified as pathogenic. (less)
|
|
Pathogenic
(Dec 19, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Revvity Omics, Revvity
Accession: SCV002023524.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
|
|
Pathogenic
(Oct 10, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV004357629.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces glycine with aspartic acid at codon 686 of the MSH6 protein. Computational prediction suggests that this variant may have deleterious impact … (more)
This missense variant replaces glycine with aspartic acid at codon 686 of the MSH6 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). DNA mismatch repair and DNA damage tolerance assays have shown that this variant reduces protein function (PMID: 28531214, 31965077). This variant has been reported in individuals affected with Lynch syndrome or suspected of having Lynch syndrome (PMID: 25980754, 25559809, 26552419, 26552419, 27273229), colorectal cancer (PMID: 18809606, 22949379, 28944238), or breast cancer (PMID: 26681312). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Pathogenic. (less)
|
|
Pathogenic
(Jan 28, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary nonpolyposis colorectal neoplasms
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000218884.10
First in ClinVar: Mar 29, 2015 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 686 of the MSH6 protein … (more)
This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 686 of the MSH6 protein (p.Gly686Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of Lynch syndrome and/or constitutional mismatch repair deficiency syndrome (PMID: 18809606, 22949379, 25559809, 26552419, 26681312, 27273229, 28514183, 28944238; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 89245). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MSH6 protein function with a negative predictive value of 95%. Experimental studies have shown that this missense change affects MSH6 function (PMID: 28531214, 31965077). For these reasons, this variant has been classified as Pathogenic. (less)
|
|
Likely Pathogenic
(Oct 14, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Lynch syndrome
Affected status: unknown
Allele origin:
germline
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV004848293.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024 |
Comment:
The p.Gly686Asp variant in MSH6 has been reported in at least 5 individuals with Lynch syndrome (Yurgelun 2015, Goodfellow 2015, Thompson 2013, Hampel 2008, DeRycke … (more)
The p.Gly686Asp variant in MSH6 has been reported in at least 5 individuals with Lynch syndrome (Yurgelun 2015, Goodfellow 2015, Thompson 2013, Hampel 2008, DeRycke 2017) and in 1 individual with breast cancer, who also carried a likely pathogenic variant in CHEK2 (Susswein 2016). It was absent from large population studies. This variant was classified as likely pathogenic on September 5, 2013 by the ClinGen-approved InSiGHT expert panel (Variation ID 89245) and several clinical labs. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, and in vitro and in vivo (patient tumor) functional studies provide further evidence that this variant impacts protein function (Houlleberghs 2017, Goodfellow 2015, Thompson 2013). In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal dominant Lynch syndrome. ACMG/AMP Criteria applied: PM2, PS4_Moderate, PS3_Moderate, PP3. (less)
|
|
Pathogenic
(Sep 05, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000172722.10
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
The p.G686D pathogenic mutation (also known as c.2057G>A), located in coding exon 4 of the MSH6 gene, results from a G to A substitution at … (more)
The p.G686D pathogenic mutation (also known as c.2057G>A), located in coding exon 4 of the MSH6 gene, results from a G to A substitution at nucleotide position 2057. The glycine at codon 686 is replaced by aspartic acid, an amino acid with similar properties. This alteration has been identified in individuals who met Amsterdam II criteria for Lynch syndrome and one proband was reportedly diagnosed with rectal adenocarcinoma characterized by microsatellite instability as well as isolated loss of MSH6 protein expression on immunohistochemistry (IHC) (Ambry internal data; Buchanan DD et al. J. Gastroenterol. Hepatol., 2017 Feb;32:427-438). In addition, p.G686D has been identified in multiple individuals with Lynch syndrome-associated cancers undergoing multi-gene panel testing (Yurgelun MB et al. Gastroenterology. 2015 May. pii: S0016-5085(15)00678-2; DeRycke MS et al. Mol Genet Genomic Med, 2017 Sep;5:553-569; Roberts ME et al. Genet. Med., 2018 10;20:1167-1174). In a study that quantified tumor characteristics to assess pathogenicity for germline mismatch repair gene variants, this variant was reported in individuals with Lynch syndrome-associated tumors that demonstrated isolated loss of MSH6 protein expression on IHC (Ambry internal data; Li S et al. J. Med. Genet., 2020 Jan;57:62-69). Functional analyses of G686D suggest this alteration abrogates mismatch repair activity (Houlleberghs H et al. PLoS Genet., 2017 May;13:e1006765). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. (less)
|
|
Likely pathogenic
(Dec 17, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Endometrial carcinoma
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004195669.2
First in ClinVar: Dec 30, 2023 Last updated: Jun 17, 2024 |
|
|
Likely pathogenic
(Mar 24, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Lynch syndrome 5
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
|
Genetics and Molecular Pathology, SA Pathology
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002761770.1
First in ClinVar: Dec 17, 2022 Last updated: Dec 17, 2022 |
|
|
Likely pathogenic
(May 11, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Lynch syndrome 5
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000677747.2
First in ClinVar: Jan 07, 2018 Last updated: Dec 24, 2022 |
|
|
Pathogenic
(Apr 27, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000211288.17
First in ClinVar: Feb 24, 2015 Last updated: May 06, 2023 |
Comment:
Observed in patients with Lynch-related cancers, many with tumor studies consistent with pathogenic variants in this gene (Hampel et al., 2008; Goodfellow et al., 2015; … (more)
Observed in patients with Lynch-related cancers, many with tumor studies consistent with pathogenic variants in this gene (Hampel et al., 2008; Goodfellow et al., 2015; Yurgelun et al., 2015; Chubb et al., 2016; Buchanan et al., 2017); Published functional studies demonstrate a damaging effect: defective mismatch binding and MMR activity (Houlleberghs et al., 2017; Drost et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 22949379, 25980754, 26552419, 18809606, 27329137, 17531815, 21120944, 24362816, 28531214, 27273229, 31965077, 25559809, 28514183, 28944238, 26681312, 30787465, 33087929, 28888541) (less)
|
|
Pathogenic
(Mar 29, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Lynch syndrome 5
Affected status: unknown
Allele origin:
unknown
|
Myriad Genetics, Inc.
Accession: SCV004018984.1
First in ClinVar: Jul 29, 2023 Last updated: Jul 29, 2023 |
Comment:
This variant is considered pathogenic. This variant is expected to disrupt protein structure [Myriad internal data]. Functional studies indicate this variant impacts protein function [PMID: … (more)
This variant is considered pathogenic. This variant is expected to disrupt protein structure [Myriad internal data]. Functional studies indicate this variant impacts protein function [PMID: 28531214]. This variant is strongly associated with more severe personal and family histories of cancer, typical for individuals with pathogenic variants in this gene [PMID: 25085752]. (less)
|
|
Uncertain significance
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
unknown
|
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000691928.1
First in ClinVar: Feb 19, 2018 Last updated: Feb 19, 2018 |
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
Endometrial carcinoma
Affected status: yes
Allele origin:
unknown
|
Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000592594.2 First in ClinVar: Mar 29, 2015 Last updated: Apr 13, 2021 |
Comment:
The p.Gly686Asp variant was identified in 1 of 226 proband chromosomes (frequency: 0.004) from individuals or families with colorectal cancers (Hampel 2008). The variant was … (more)
The p.Gly686Asp variant was identified in 1 of 226 proband chromosomes (frequency: 0.004) from individuals or families with colorectal cancers (Hampel 2008). The variant was not identified in dbSNP, NHLBI Exome Sequencing Project (Exome Variant Server), Exome Aggregation Consortium (ExAC) databases. The variant was identified in Insight Colon Cancer Database (1x classified as likely pathogenic) and in Clinvitae (2x as likely pathogenic). In the ClinVar database, the variant was reported as likely pathogenic by Insight, Ambry Genetics, and GeneDX; Invitae classified the variant as of uncertain significance. The p.Gly686 residue is conserved across mammals but not in all other organisms, and four out of five computational analyses (PolyPhen-2, SIFT, BLOSUM, MutationTaster) suggest that the Aspartic Acid variant may impact the protein. In silico splicing analysis suggests that this variant leads to creation of a cryptic 5’ donor splice site in 4 out 5 programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, Human Splicing Finder). However, this information is not predictive enough to assume pathogenicity. In addition, a multifactorial analysis study (Thompson 2013) concluded that the variant was likely pathogenic (posterior probability 0.95-0.99). This variant has been previously seen by our laboratory in one family with Lynch syndrome. In this family the variant was identified in four affected members, there are two affected obligate carries, across 2 generations, for a total of 6 dominant segregations. The four variant positive family members had MSH6 deficient tumors, although one of these tumors was deficient for MLH1, MSH2 and PMS2 as well. The cancers in the family include ureter, endometrial and skin cancer however one obligate carrier was reported to have skin cancer which has not been confirmed with medical documentation. We cannot rule out the possibility that the cancer in this family is due to a separate pathogenic variant that is also tracking with the disease. However, at least one family member with this variant had complete sequencing (by Sanger) and deletion duplication analysis (by MLPA) for the MLH1, MSH2 (EPCAM del/dup) and MSH6 genes which did not identify other causal variants. In summary, based on the above information, this variant meets our laboratory’s criteria to be classified as pathogenic. (less)
Number of individuals with the variant: 1
|
|
click to load more click to collapse |
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 |
---|---|---|---|---|
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 |
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions. | Fahed AC | Nature communications | 2020 | PMID: 32820175 |
Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome. | Drost M | Genetics in medicine : official journal of the American College of Medical Genetics | 2020 | PMID: 31965077 |
Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity. | Li S | Journal of medical genetics | 2020 | PMID: 31391288 |
Toward automation of germline variant curation in clinical cancer genetics. | Ravichandran V | Genetics in medicine : official journal of the American College of Medical Genetics | 2019 | PMID: 30787465 |
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. | DeRycke MS | Molecular genetics & genomic medicine | 2017 | PMID: 28944238 |
Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls. | Lilyquist J | Gynecologic oncology | 2017 | PMID: 28888541 |
Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity. | Houlleberghs H | PLoS genetics | 2017 | PMID: 28531214 |
Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. | Espenschied CR | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2017 | PMID: 28514183 |
Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts. | Buchanan DD | Journal of gastroenterology and hepatology | 2017 | PMID: 27273229 |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. | Susswein LR | Genetics in medicine : official journal of the American College of Medical Genetics | 2016 | PMID: 26681312 |
Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study. | Goodfellow PJ | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2015 | PMID: 26552419 |
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. | Yurgelun MB | Gastroenterology | 2015 | PMID: 25980754 |
Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. | Chubb D | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2015 | PMID: 25559809 |
Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes. | Pruss D | Breast cancer research and treatment | 2014 | PMID: 25085752 |
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 |
A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. | Thompson BA | Human mutation | 2013 | PMID: 22949379 |
Feasibility of screening for Lynch syndrome among patients with colorectal cancer. | Hampel H | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2008 | PMID: 18809606 |
http://www.insight-database.org/classifications/?gene=MSH6&variant=c.2057G%3EA | - | - | - | - |
click to load more click to collapse |
Text-mined citations for rs587779227 ...
HelpRecord last updated Jun 23, 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.