ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.360del (p.Thr121fs)

dbSNP: rs1064794031
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
GeneDx RCV000486207 SCV000567633 pathogenic not provided 2020-10-28 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek 2016)
Ambry Genetics RCV000493948 SCV000581488 pathogenic Hereditary cancer-predisposing syndrome 2022-12-09 criteria provided, single submitter clinical testing The c.360delG pathogenic mutation, located in coding exon 4 of the BMPR1A gene, results from a deletion of one nucleotide at nucleotide position 360, causing a translational frameshift with a predicted alternate stop codon (p.T121Qfs*2). This alteration has been observed in at least one individual with a personal and/or family history that is consistent with Juvenile Polyposis syndrome (JPS) (Ambry internal data). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV001851169 SCV002148331 pathogenic Juvenile polyposis syndrome 2021-03-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with BMPR1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 419669). This sequence change creates a premature translational stop signal (p.Thr121Glnfs*2) in the BMPR1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BMPR1A are known to be pathogenic (PMID: 11536076, 12417513). This variant is not present in population databases (ExAC no frequency).
Myriad Genetics, Inc. RCV001851169 SCV004044067 pathogenic Juvenile polyposis syndrome 2023-05-26 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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.