ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.457+13A>G (rs1800933)

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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074991 SCV000108208 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability 0.001-0.049
GeneDx RCV000202213 SCV000170369 benign not specified 2013-10-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Vantari Genetics RCV000126840 SCV000267053 benign Hereditary cancer-predisposing syndrome 2015-12-22 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000202213 SCV000302880 benign not specified criteria provided, single submitter clinical testing
Color Health, Inc RCV000126840 SCV000537388 benign Hereditary cancer-predisposing syndrome 2015-04-06 criteria provided, single submitter clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. RCV000126840 SCV000679732 likely benign Hereditary cancer-predisposing syndrome 2017-07-12 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000611257 SCV000744286 benign Hereditary nonpolyposis colorectal cancer type 5 2015-09-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000611257 SCV000745647 benign Hereditary nonpolyposis colorectal cancer type 5 2016-10-07 criteria provided, single submitter clinical testing
Mendelics RCV000611257 SCV001135785 likely benign Hereditary nonpolyposis colorectal cancer type 5 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000202213 SCV001158616 benign not specified 2019-01-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000611257 SCV001300596 likely benign Hereditary nonpolyposis colorectal cancer type 5 2018-02-22 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000202213 SCV000257300 likely benign not specified no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001353859 SCV000592568 benign Carcinoma of colon no assertion criteria provided clinical testing The c.457+13A>G variant has been previously reported in the literature in individuals with CRC (8/295 chromosomes) but the frequency in controls did not differ significantly from the cases tested (6/185 chromosomes) (Peterlongo_2003_14520694, Woods_2005_16203774). This variant was listed in dbSNP (rs1800933) 'with untested allele' and reported from the 1000 genomes 4 times (MAF of 0.002) The exome variant server reported this variant in a European cohort with the following frequency increasing the likelihood this variant does not have clinical significance: G=54/A=8546. Further, this variant does not occur within the splicing consensus sequence increasing the likelihood this variant does not have clinical significance.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000611257 SCV000734209 likely benign Hereditary nonpolyposis colorectal cancer type 5 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572716 SCV001797513 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology,Netherlands Cancer Institute RCV000202213 SCV001906026 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000202213 SCV001922705 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000202213 SCV001956698 benign not specified no assertion criteria provided clinical testing

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