ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2802G>A (p.Thr934=) (rs150259097)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163660 SCV000214230 likely benign Hereditary cancer-predisposing syndrome 2014-08-13 criteria provided, single submitter clinical testing
Color RCV000163660 SCV000690099 likely benign Hereditary cancer-predisposing syndrome 2016-02-17 criteria provided, single submitter clinical testing
Counsyl RCV000410886 SCV000488013 likely benign Lynch syndrome I 2015-12-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590245 SCV000696258 uncertain significance not provided 2017-05-26 criteria provided, single submitter clinical testing Variant summary: The MSH2 c.2802G>A (p.Thr934Thr) variant is located at the last position before the stop codon causing a synonymous change that 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may alter ESE binding. However, these predictions have yet to be confirmed by functional studies. This variant was found in 9/112026 control chromosomes at a frequency of 0.0000803, which does not exceed the estimated maximal expected allele frequency of a pathogenic MSH2 variant (0.0005683). InSight classifies the variant as a Class 3 - UV and reports the variant to co-occur with a potentially pathogenic MSH6 variant, c.3932_3935dup (p.Ile1313SerfsX7). The variant of interest has not been reported, to our knowledge, in affected individuals via publications. However, multiple clinical diagnostic laboratories/reputable databases have classified this variant with conflicting classifications "uncertain significance" or "benign/likely benign." Therefore, until additional information becomes available, the variant of interest has been classified as a "Variant of Uncertain Significance (VUS) - Possibly Benign."
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076553 SCV000107582 uncertain significance Lynch syndrome 2013-09-05 reviewed by expert panel research Insufficient evidence
Invitae RCV000524400 SCV000284163 benign Hereditary nonpolyposis colon cancer 2017-12-22 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000590245 SCV000778618 likely benign not provided 2017-10-17 no assertion criteria provided clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000505974 SCV000601472 likely benign not specified 2016-08-26 criteria provided, single submitter clinical testing

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