ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.4290+5C>T (rs5744936)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434235 SCV000518033 benign not specified 2016-12-01 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 RCV000459685 SCV000556405 benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000492639 SCV000581382 benign Hereditary cancer-predisposing syndrome 2015-05-21 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000434235 SCV000602047 benign not specified 2016-10-28 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590621 SCV000698674 benign not provided 2016-05-19 criteria provided, single submitter clinical testing Variant summary: The POLE c.4290+5C>T variant involves the alteration of a non-conserved nucleotide located in an intronic position outside of the canonical slice sites. Mutation taster predicts a damaging outcome for this variant while 5/5 in silico tools via Alamut predict the variant no to have a significant impact on splicing. The variant was found in 2827/117634 control chromosomes (40 homozygotes) at a frequency of 0.0240322, which is approximately 1692 times the estimated maximal expected allele frequency of a pathogenic POLE variant (0.0000142), suggesting this variant is likely a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as Benign.
PreventionGenetics,PreventionGenetics RCV000434235 SCV000806778 benign not specified 2016-11-22 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000492639 SCV000788178 likely benign Hereditary cancer-predisposing syndrome 2018-02-28 no assertion criteria provided clinical testing

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