Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Color Diagnostics, |
RCV001188086 | SCV001355054 | likely benign | Hereditary cancer-predisposing syndrome | 2018-04-19 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV002068489 | SCV002453356 | likely benign | PTEN hamartoma tumor syndrome | 2023-07-31 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV001188086 | SCV003997341 | likely benign | Hereditary cancer-predisposing syndrome | 2023-03-17 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| CHEO Genetics Diagnostic Laboratory, |
RCV003492227 | SCV004239981 | likely benign | Breast and/or ovarian cancer | 2022-06-30 | criteria provided, single submitter | clinical testing | |
| Department of Pathology and Laboratory Medicine, |
RCV001358199 | SCV001553872 | likely benign | Carcinoma of colon | no assertion criteria provided | clinical testing | The PTEN p.Glu150= variant was not identified in the literature nor was it identified in the ClinVar or LOVD 3.0 databases. The variant was identified in dbSNP (ID: rs757777398). The variant was identified in control databases in 1 of 246044 chromosomes at a frequency of 0.000004 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the Other population in 1 of 5480 chromosomes (freq: 0.0002), while the variant was not observed in the African, Latino, European, Ashkenazi Jewish, East Asian, Finnish, or South Asian populations. The p.Glu150= variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. In addition, 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. |