ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.211+8C>T (rs267607916)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000579968 SCV000685010 likely benign Hereditary cancer-predisposing syndrome 2015-11-12 criteria provided, single submitter clinical testing
Counsyl RCV000663062 SCV000786123 likely benign Lynch syndrome I 2018-02-27 criteria provided, single submitter clinical testing
GeneDx RCV000427874 SCV000513648 benign not specified 2015-08-15 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.
Integrated Genetics/Laboratory Corporation of America RCV000427874 SCV000917711 uncertain significance not specified 2018-01-12 criteria provided, single submitter clinical testing Variant summary: The MSH2 c.211+8C>T variant involves the alteration of a non-conserved intronic nucleotide and 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts the elimination of ESE binding sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 10/242066 control chromosomes (gnomAD), predominantly observed in the European (Non-Finnish) subpopulation at a frequency of 0.000092 (10/108416). This frequency does not exceed the estimated maximal expected allele frequency of a pathogenic MSH2 variant (0.0005683). Multiple clinical diagnostic laboratories classified this variant as "likely benign/benign." The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a "Variant of Uncertain Significance - Possibly Benign," until additional information becomes available.
Invitae RCV000476851 SCV000559218 likely benign Hereditary nonpolyposis colon cancer 2017-12-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759110 SCV000888216 likely benign not provided 2018-08-14 criteria provided, single submitter clinical testing

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