ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2820+12C>T

gnomAD frequency: 0.00001  dbSNP: rs567217817
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601080 SCV000725643 likely benign not specified 2017-12-08 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000601080 SCV004243003 likely benign not specified 2024-02-06 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001354769 SCV001549463 likely benign Carcinoma of colon no assertion criteria provided clinical testing The POLD1 c.2820+12C>T variant was not identified in the literature. The variant was identified in dbSNP (rs567217817) as “with likely benign allele” and ClinVar (classified as likely benign by GeneDx). The variant was identified in control databases in 13 of 133,524 chromosomes at a frequency of 0.0001 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: East Asian in 9 of 11,720 chromosomes (freq: 0.0008), South Asian in 4 of 13,138 chromosomes (freq: 0.0003), while the variant was not observed in the African, Latino, Ashkenazi Jewish, Finnish, European and Other populations. The variant occurs at a non-highly conserved nucleotide 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.

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