ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.1243_1244delinsTTTC (p.Glu415fs) (rs1064795654)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484302 SCV000571657 likely pathogenic not provided 2016-09-13 criteria provided, single submitter clinical testing This combined deletion and insertion is denoted BMPR1A c.1243_1244delGAinsTTTC at the cDNA level and p.Glu415PhefsX4 (E415FfsX4) at the protein level. The normal sequence, with the bases that are deleted in braces and inserted in brackets, is GGAC[GA][TTTC]AAGC. The variant causes a frameshift, which changes a Glutamic Acid to a Phenylalanine at codon 415, and creates a premature stop codon at position 4 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, and is considered likely pathogenic.

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