ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.2468+12C>T

gnomAD frequency: 0.00006  dbSNP: rs776938447
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440455 SCV000524901 likely benign not specified 2016-02-25 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237845 SCV002009594 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003237845 SCV002394466 likely benign not provided 2024-12-23 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000440455 SCV004027344 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001355469 SCV001550362 likely benign Polymerase proofreading-related adenomatous polyposis no assertion criteria provided clinical testing The POLE c.2468+12C>T variant was not identified in the literature. The variant was identified in dbSNP (ID: rs776938447) as "With Likely benign allele" and ClinVar (classified as likely benign by GeneDx). The variant was identified in control databases in 7 of 276064 chromosomes at a frequency of 0.00003 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: African in 1 of 23990 chromosomes (freq: 0.00004), Other in 1 of 6442 chromosomes (freq: 0.0002), European in 3 of 126000 chromosomes (freq: 0.00002), and East Asian in 2 of 18824 chromosomes (freq: 0.0001), while the variant was not observed in the Latino, Ashkenazi Jewish, Finnish, or South Asian populations. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing and the nucleotide at this position is not conserved across species. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign.

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