ClinVar Miner

Submissions for variant NC_000007.14:g.(?_5995528)_(5995639_?)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 RCV000541152 SCV000624601 pathogenic Hereditary nonpolyposis colorectal neoplasms 2018-02-19 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 8 of the PMS2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Deletions of exon 8 have been reported in the literature in the heterozygous state in an individual affected with colorectal cancer (PMID: 18602922) and in the homozygous state in an individual with constitutional mismatch repair deficiency (PMID: 24440087). 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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