Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000417561 | SCV000514194 | benign | not specified | 2015-08-18 | 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, |
RCV000580715 | SCV000686228 | likely benign | Hereditary cancer-predisposing syndrome | 2017-03-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002061467 | SCV002430170 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV001358403 | SCV001554123 | likely benign | Lynch syndrome | no assertion criteria provided | clinical testing | The PMS2 c.705+12C>T variant was not identified in the literature. The variant was identified in dbSNP (ID: rs368486366) as "With Likely benign allele" and ClinVar (classified as benign by GeneDx; as likely benign by Color). The variant was identified in control databases in 6 of 246260 chromosomes at a frequency of 0.00002 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: African in 4 of 15304 chromosomes (freq: 0.0003, increasing the likelihood that this could be a low frequency benign variant) and Latino in 2 of 33582 chromosomes (freq: 0.00006), while it was not observed in the Other, European, Ashkenazi Jewish, East Asian, Finnish, or South Asian 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. |