ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.3121-14G>A

gnomAD frequency: 0.00031  dbSNP: rs367766963
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410505 SCV000489693 likely benign Colorectal cancer, susceptibility to, 10 2016-11-07 criteria provided, single submitter clinical testing
GeneDx RCV000421943 SCV000521427 likely benign not specified 2016-10-24 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 RCV000679508 SCV000806522 likely benign not provided 2017-07-20 criteria provided, single submitter clinical testing
Invitae RCV000410505 SCV001675998 likely benign Colorectal cancer, susceptibility to, 10 2024-01-31 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001356969 SCV001552276 likely benign Polymerase proofreading-related adenomatous polyposis no assertion criteria provided clinical testing The POLD1 c.3121-14G>A variant was not identified in the literature. The variant was identified in dbSNP (ID: rs367766963) as “With Likely benign allele” and ClinVar (classified as likely benign by GeneDx, PreventionGenetics and Counsyl). The variant was identified in control databases in 36 of 231642 chromosomes at a frequency of 0.0002 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: African in 15 of 20212 chromosomes (freq: 0.0007), Latino in 9 of 30460 chromosomes (freq: 0.0003), European Non-Finnish in 9 of 102726 chromosomes (freq: 0.00009), East Asian in 2 of 16182 chromosomes (freq: 0.0001), and South Asian in 1 of 27054 chromosomes (freq: 0.00004); it was not observed in the Other, Ashkenazi Jewish, or European Finnish 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. 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.