ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.886A>T (p.Ile296Phe)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004012465 SCV004842992 uncertain significance Juvenile polyposis syndrome 2023-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004950777 SCV005539116 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-05 criteria provided, single submitter clinical testing The p.I296F variant (also known as c.886A>T), located in coding exon 8 of the BMPR1A gene, results from an A to T substitution at nucleotide position 886. The isoleucine at codon 296 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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.