ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) (rs1042821)

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Total submissions: 23
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030258 SCV000107840 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035318 SCV000058966 benign not specified 2008-10-29 criteria provided, single submitter clinical testing Gly39Glu in exon 1 of MSH6: This variant is not expected to have clinical signif icance because it has been identified in 17% (1336/7748) of European American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS/rs1042821). Gly39Glu in exon 1 of MSH6 (rs1042821; a llele frequency = 17%, 1336/7748) **
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000035318 SCV000110149 benign not specified 2016-02-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000132091 SCV000187155 benign Hereditary cancer-predisposing syndrome 2014-10-27 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Color Health, Inc RCV000132091 SCV000292086 benign Hereditary cancer-predisposing syndrome 2014-11-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000035318 SCV000302867 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000609254 SCV000430945 likely benign Hereditary nonpolyposis colorectal cancer type 5 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282859 SCV000604270 benign none provided 2020-09-01 criteria provided, single submitter clinical testing
IntelligeneCG RCV000144626 SCV000611715 benign Lynch syndrome I 2017-08-18 criteria provided, single submitter clinical testing
Invitae RCV001079921 SCV000624619 benign Hereditary nonpolyposis colorectal neoplasms 2020-11-28 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000609254 SCV000744284 benign Hereditary nonpolyposis colorectal cancer type 5 2015-09-21 criteria provided, single submitter clinical testing
Mendelics RCV000609254 SCV001135774 benign Hereditary nonpolyposis colorectal cancer type 5 2019-05-28 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001262327 SCV001440150 benign Breast carcinoma 2019-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000034489 SCV001892538 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24622885, 29442465, 28932927, 27153395, 18523027, 19582761, 24689082, 22949387, 19685280, 22703879)
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034489 SCV000043349 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030258 SCV000052925 benign Lynch syndrome 2011-12-02 no assertion criteria provided clinical testing
Pathway Genomics RCV000144626 SCV000189953 benign Lynch syndrome I 2014-07-24 no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000035318 SCV000257208 benign not specified no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001353505 SCV000592563 benign Carcinoma of colon no assertion criteria provided clinical testing The p.Gly39Glu variant has been previously reported in the literature and is recorded in dbSNP as a polymorphism with an average heterozygosity of 0.307+/-0.243 (dbSNP#: rs1042821); this appreciable frequency in different populations of origin increases the likelihood this is a benign variant. In addition, this variant has been identified by our laboratory in at least one individual with a second pathogenic vairiant, increasing the likelihood this variant is benign. In summary, based on the above information, this variant is classified as benign.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000609254 SCV000734206 benign Hereditary nonpolyposis colorectal cancer type 5 no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology,Netherlands Cancer Institute RCV000035318 SCV001906443 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000035318 SCV001921533 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000035318 SCV001959944 benign not specified no assertion criteria provided clinical testing

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