ClinVar Miner

Submissions for variant NC_000007.14:g.(?_5999102)_(6009025_?)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 RCV000630432 SCV000751388 pathogenic Hereditary nonpolyposis colorectal neoplasms 2017-11-13 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 1-6 of the PMS2 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 6 of the PMS2 gene. This is expected to result in an absent or disrupted protein product. A gross deletion of exons 1-6 has been reported in an individual affected with colon cancer (PMID: 20205264). Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). For these reasons, this variant has been classified as Pathogenic.

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