Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002357210 | SCV002656250 | likely benign | Hereditary cancer-predisposing syndrome | 2022-10-12 | 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. |
| Myriad Genetics, |
RCV004590348 | SCV005085824 | benign | Familial adenomatous polyposis 1 | 2024-04-03 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |
| Department of Pathology and Laboratory Medicine, |
RCV001357776 | SCV001553347 | likely benign | Carcinoma of colon | no assertion criteria provided | clinical testing | The APC p.Ser2045Ser variant was not identified in the literature. The variant was identified in dbSNP (ID: rs 187297940) “With likely benign allele”, Clinvitae database (as likely benign), ClinVar database (classified as “likely benign” by Invitae) and the Exome Aggregation Consortium (ExAC) database (released Jan 13, 2015) in 8 of 66680 chromosomes (frequency: 0.00012) from a population of European (Non-Finnish) individuals as well as at extremely low frequencies in European (Finnish) (0.00015) and South Asian (0.00006) populations, although this low number of observations and low frequency is not substantive enough to determine the prevalence of the variant in the general population and its relationship to disease. The p.Ser2045Ser 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 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. |