ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1548+3_1548+4del (rs886039510)

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 RCV000254937 SCV000322203 likely pathogenic not provided 2016-05-02 criteria provided, single submitter clinical testing This variant is denoted APC c.1548+3_1548+4delAT or IVS12+3_IVS12+4delAT and consists of a deletion of two nucleotides at the +3 to +4 position in intron 12 of the APC gene. The normal sequence with the bases that are deleted in braces is AGgt[at]gttt, where the capital letters are exonic and lowercase are intronic. Multiple in silico models predict that this variant destroys the natural splice donor site for intron 12, resulting in abnormal splicing. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant was identified in 1/1591 individuals suspected of having Familial Adenomatous Polyposis (Kerr 2013). APC c.1548+3_1548+4delAT was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The adenine (A) nucleotide that is altered is conserved through mammals, while the thymine (T) nucleotide is not conserved across species. Based on the currently available evidence, we consider APC c.1548+3_1548+4delAT 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.