ClinVar Miner

Submissions for variant NC_000007.14:g.(?_6008925)_(6009468_?)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 RCV001031777 SCV001195083 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-10-31 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 1 of the PMS2 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). A similar copy number variant has been observed in individual(s) with colorectal cancer (PMID: 18602922, 18809606, 24068316). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. For these reasons, this variant has been classified as Pathogenic.

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