ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.405dup (p.Pro136fs) (rs876660442)

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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 RCV000214964 SCV000277869 pathogenic Hereditary cancer-predisposing syndrome 2017-03-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000473459 SCV000552869 pathogenic Juvenile polyposis syndrome 2018-07-09 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 6 of the BMPR1A mRNA (c.405dupA), causing a frameshift at codon 136. This creates a premature translational stop signal (p.Pro136Thrfs*13) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in BMPR1A are known to be pathogenic. This particular variant has been reported in an individual affected with juvenile polyposis (PMID: 16436638). This variant is also known as 405-406insA in the literature. For these reasons, this variant has been classified as Pathogenic.

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