ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2667G>T (p.Gln889His) (rs149945495)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000115393 SCV000185458 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or Conflicting Evidence
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034496 SCV000043359 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Color RCV000115393 SCV000685307 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-28 criteria provided, single submitter clinical testing
Counsyl RCV000410628 SCV000488488 uncertain significance Hereditary nonpolyposis colorectal cancer type 5 2016-04-14 criteria provided, single submitter clinical testing
GeneDx RCV000034496 SCV000149302 uncertain significance not provided 2018-08-10 criteria provided, single submitter clinical testing This variant is denoted MSH6 c.2667G>T at the cDNA level, p.Gln889His (Q889H) at the protein level, and results in the change of a Glutamine to a Histidine (CAG>CAT). This variant was observed in at least two individuals with breast cancer and one individual with pancreatic cancer (Lu 2015, Rummel 2017, Shindo 2017). MSH6 Gln889His was observed at an allele frequency of 0.15% (35/23,982) in individuals of African ancestry in large population cohorts (Lek 2016). This variant is located in the Lever domain (Warren 2007, Kansikas 2011). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether MSH6 Gln889His is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Genetic Services Laboratory, University of Chicago RCV000235185 SCV000595854 uncertain significance not specified 2017-01-12 criteria provided, single submitter clinical testing
Invitae RCV000199727 SCV000254299 likely benign Hereditary nonpolyposis colon cancer 2017-12-27 criteria provided, single submitter clinical testing
Mendelics RCV000708879 SCV000837901 uncertain significance Lynch syndrome 2018-07-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000235185 SCV000601536 uncertain significance not specified 2017-01-09 criteria provided, single submitter clinical testing

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