ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.40dup (p.Tyr14fs) (rs1554886815)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657333 SCV000779065 likely pathogenic not provided 2017-06-07 criteria provided, single submitter clinical testing This duplication of one nucleotide in BMPR1A is denoted c.40dupT at the cDNA level and p.Tyr14LeufsX15 (Y14LfsX15) at the protein level. The normal sequence, with the base that is duplicated in brackets, is AGCC[dupT]ATTT. The duplication causes a frameshift which changes a Tyrosine to a Leucine at codon 14, and creates a premature stop codon at position 15 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Based on the currently available information, we consider this duplication to be a likely pathogenic variant.

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