Total submissions: 5
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 | |
Gene |
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. |
Prevention |
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, |
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. |