ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.3068-14C>T

gnomAD frequency: 0.00041  dbSNP: rs3218758
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409979 SCV000489438 likely benign Colorectal cancer, susceptibility to, 10 2016-10-04 criteria provided, single submitter clinical testing
GeneDx RCV000429756 SCV000518253 likely benign not specified 2017-08-25 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.
PreventionGenetics, part of Exact Sciences RCV000679507 SCV000806521 likely benign not provided 2017-12-19 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000679507 SCV002010552 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000409979 SCV002357447 benign Colorectal cancer, susceptibility to, 10 2024-01-30 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000429756 SCV002551988 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004017604 SCV004849223 uncertain significance Hereditary cancer-predisposing syndrome 2015-10-03 criteria provided, single submitter clinical testing The c.3068-14C>T intronic alteration consists of a C to T substitution 14 nucleotides before coding exon 24 in the POLD1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001357021 SCV001552345 likely benign Carcinoma of colon no assertion criteria provided clinical testing The POLD1 c.3068-14C>T variant was not identified in the literature, nor was it identified in the COSMIC database. The variant was identified in dbSNP (ID: rs3218758) as "With Likely benign allele", ClinVar (classified as likely benign by Counsyl and GeneDx), and Clinvitae. The variant was identified in control databases in 76 of 177654 chromosomes at a frequency of 0.0004 (Genome Aggregation Database Feb 27, 2017). It was observed in the following populations: African in 1 of 16356 chromosomes (freq: 0.0001), Other in 1 of 4758 chromosomes (freq: 0.0002), Latino in 7 of 24694 chromosomes (freq: 0.0003), European in 60 of 71074 chromosomes (freq: 0.001), Finnish in 4 of 17792 chromosomes (freq: 0.0002), and South Asian in 3 of 22678 chromosomes (freq: 0.0001); but not observed in the Ashkenazi Jewish, or East Asian populations. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. 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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