ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5901C>T (p.Ser1967=)

gnomAD frequency: 0.00001  dbSNP: rs1561603572
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000772251 SCV000905369 likely benign Hereditary cancer-predisposing syndrome 2018-03-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV004569433 SCV003223598 likely benign Familial adenomatous polyposis 1 2023-08-30 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004569433 SCV005084867 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, Sinai Health System RCV001356527 SCV001551726 likely benign Carcinoma of colon no assertion criteria provided clinical testing The APC p.Ser1967= variant was not identified in the literature nor was it identified in the dbSNP, LOVD 3.0 or UMD-LSDB databases. The variant was identified in ClinVar (classified as likely benign by Color). The variant was not identified in the following control databases: the Exome Aggregation Consortium (August 8th 2016) or the Genome Aggregation Database (Feb 27, 2017). The p.Ser1967= 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. 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) 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.