ClinVar Miner

Submissions for variant NC_000002.12:g.(?_47403182)_(47429951_?)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 RCV000810673 SCV000950900 pathogenic Hereditary nonpolyposis colorectal neoplasms 2018-12-10 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 1-7 of the MSH2 gene, which includes the initiator codon. If EPCAM has been tested and no copy number events are reported for it, then the 5' boundary of this event lies between the EPCAM and MSH2 genes. If EPCAM has not been tested, the 5' end of this event is unknown as it extends beyond the assayed region of this test. The 3' boundary is likely confined to intron 7 of the MSH2 gene. This is expected to result in an absent or disrupted protein product. Similar deletions have been reported in several individuals and families affected with Lynch syndrome (PMID: 15942939, 16086322, 12938096, 19930554, 12373605, 16143124). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic.

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