ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1743+5C>T

gnomAD frequency: 0.00001  dbSNP: rs876658386
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
Ambry Genetics RCV000222937 SCV000273526 likely benign Hereditary cancer-predisposing syndrome 2019-09-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
GeneDx RCV000482447 SCV000570045 uncertain significance not provided 2016-04-20 criteria provided, single submitter clinical testing This variant is denoted APC c.1743+5C>T or IVS14+5C>T and consists of a C>T nucleotide substitution at the +5 position of intron 14 of the APC gene. This variant is not predicted to cause abnormal splicing; however, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. APC c.1743+5C>T 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 cytosine (C) nucleotide that is altered is conserved in mammals. Based on currently available information, it is unclear whether APC c.1743+5C>T is pathogenic or benign. We consider it to be a variant of uncertain significance.
Invitae RCV003534502 SCV000953489 likely benign Familial adenomatous polyposis 1 2023-12-22 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV000813144 SCV001749339 not provided Familial adenomatous polyposis 1 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 07-31-2017 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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.