ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.(?_-1)_1076+?del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000199211 SCV000253795 pathogenic Lynch syndrome 2015-08-27 criteria provided, single submitter clinical testing This sequence change is a gross deletion of the genomic region encompassing exons 1-6 of the MSH2 gene. This deletion includes the translation initiation methionine and extends beyond both edges of the assayed region, and therefore the 5' and 3' boundaries of this event are not known. It is expected to result in a disrupted or absent protein product. Deletions of exons 1-6 have been reported in several affected patients and families, and are clearly defined as Lynch syndrome causative alleles (PMID: 15942939, 16086322, 16143124). A particular deletion of exons 1-6 of the MSH2 gene is a known founder mutation in the North American population (PMID: 12658575, 16143124, 14871915). Because the breakpoints of this deletion are unknown, it is uncertain whether or not the sequence change identified in this patient is that founder mutation. For these reasons, this sequence change has been classified as Pathogenic.

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