ClinVar Miner

Submissions for variant NC_000007.14:g.(?_5986753)_(5992063_?)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 RCV000548820 SCV000624596 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-08-16 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 9-15 of the PMS2 gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. A similar copy number variant has been observed in individual(s) with colorectal cancer, Lynch syndrome, constitutional mismatch repair deficiency (PMID: 17258725, 21618646, 23629955). The region of the PMS2 gene that includes exon(s) 14-15 has been determined to be clinically significant (PMID: 21618646, 24440087, 26318770). Therefore, deletions that encompass that region are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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