ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.1549_1550delAG (p.Ser517Hisfs) (rs377767373)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657356 SCV000779088 likely pathogenic not provided 2017-07-25 criteria provided, single submitter clinical testing This deletion of two nucleotides in SMAD4 is denoted c.1549_1550delAG at the cDNA level and p.Ser517HisfsX9 (S517HfsX9) at the protein level. The normal sequence, with the bases that are deleted in brackets, is ACAG[delAG]CATC. The deletion causes a frameshift which changes a Serine to a Histidine at codon 517, and creates a premature stop codon at position 9 of the new reading frame. This variant is predicted to cause loss of normal protein function through protein truncation. SMAD4 Ser517HisfsX9, also known as c.(1546-1548)CAGfs using alternate nomenclature, has not, to our knowledge, been published in the literature as a germline variant; however, it has been reported as a somatic variant in a pancreatic tumor (Witkiewicz 2015). Based on the currently available information, we consider this deletion to be a likely pathogenic variant.

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.