Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000160899 | SCV000211593 | benign | not specified | 2014-08-05 | 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. |
Color Diagnostics, |
RCV001187146 | SCV001353842 | likely benign | Hereditary cancer-predisposing syndrome | 2019-08-22 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001187146 | SCV002530380 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-08-12 | criteria provided, single submitter | curation | |
All of Us Research Program, |
RCV003998527 | SCV004826295 | likely benign | Lynch syndrome | 2023-06-26 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV001354065 | SCV001548586 | likely benign | Malignant tumor of breast | no assertion criteria provided | clinical testing | The PMS2 c.706-13T>C variant was not identified in the literature. The variant was identified in dbSNP (rs730881918) as “with benign allele” and ClinVar (classified as benign by GeneDx). The variant was identified in control databases in 5 of 236,444 chromosomes at a frequency of 0.00002 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: European in 4 of 106,650 chromosomes (freq: 0.00004) and Latino in 1 of 32,698 chromosomes (freq: 0.00003), while it was not observed in the African, Ashkenazi Jewish, East Asian, Finnish, Other or South Asian 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, 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. |