Submissions for variant NM_000251.2(MSH2):c.289C>T (p.Gln97Ter) (rs63750970)

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Total submissions: 7

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	RCV000076556	SCV000107585	pathogenic	Lynch syndrome	2013-09-05	reviewed by expert panel	research	Coding sequence variation resulting in a stop codon
GeneDx	RCV000160586	SCV000211180	pathogenic	not provided	2014-07-28	criteria provided, single submitter	clinical testing	This pathogenic variant is denoted MSH2 c.289C>T at the cDNA level and p.Gln97Ter (Q97X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in association with Lynch syndrome (Mangold 2004). We therefore consider this variant to be pathogenic.
Counsyl	RCV000409729	SCV000489240	pathogenic	Lynch syndrome I	2016-09-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000491888	SCV000580464	pathogenic	Hereditary cancer-predisposing syndrome	2018-07-10	criteria provided, single submitter	clinical testing	Other acmg-defined mutation (i.e. initiation codon or gross deletion)
Center for Human Genetics, Inc,Center for Human Genetics, Inc	RCV000409729	SCV000781767	pathogenic	Lynch syndrome I	2016-11-01	criteria provided, single submitter	clinical testing
Invitae	RCV000699084	SCV000827779	pathogenic	Hereditary nonpolyposis colon cancer	2019-03-12	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gln97*) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals with colorectal cancer and clinical features of Lynch syndrome (PMID: 15235030, 26681312, 28874130, 24344984, 25712738). ClinVar contains an entry for this variant (Variation ID: 91054). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic.
Color	RCV000491888	SCV001348702	pathogenic	Hereditary cancer-predisposing syndrome	2020-01-15	criteria provided, single submitter	clinical testing

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