ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2175A>T (p.Ala725=) (rs769116749)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421830 SCV000522778 likely benign not specified 2016-01-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000532370 SCV000625593 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-06-24 criteria provided, single submitter clinical testing This sequence change affects codon 725 of the PMS2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PMS2 protein. The frequency data for this variant in the population databases (ExAC) is considered unreliable due to the presence of homologous sequence, such as pseudogenes or paralogs, in the genome. This variant has not been reported in the literature in individuals with PMS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 382715). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001014680 SCV001175417 likely benign Hereditary cancer-predisposing syndrome 2019-02-05 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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