ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.353+1G>A (rs113517055)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000776211 SCV000911365 likely pathogenic Hereditary cancer-predisposing syndrome 2018-08-27 criteria provided, single submitter clinical testing
GeneDx RCV000217968 SCV000279653 likely pathogenic not provided 2017-09-01 criteria provided, single submitter clinical testing This variant is denoted PMS2 c.353+1G>A or IVS4+1G>A and consists of a G>A nucleotide substitution at the +1 position of intron 4 of the PMS2 gene. This variant destroys a canonical splice donor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. This variant has not, to our knowledge, been published in the literature. Based on the currently available information, we consider PMS2 c.353+1G>A to be a likely pathogenic variant.
Invitae RCV000476751 SCV000551949 likely pathogenic Hereditary nonpolyposis colon cancer 2017-04-11 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 4 of the PMS2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a PMS2-related disease. In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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