ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.216dup (p.Asn73Ter)

dbSNP: rs786201501
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163765 SCV000214346 pathogenic Hereditary cancer-predisposing syndrome 2017-05-08 criteria provided, single submitter clinical testing The c.216dupT pathogenic mutation, located in coding exon 2 of the BMPR1A gene, results from a duplication of T at nucleotide position 216, causing a translational frameshift with a predicted alternate stop codon (p.N73*). 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.
Myriad Genetics, Inc. RCV003335153 SCV004044418 pathogenic Juvenile polyposis syndrome 2023-05-25 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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