ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.884delinsGTTCATAGCGG (p.Asp295delinsGlySerTer)

dbSNP: rs876659988
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222176 SCV000277018 pathogenic Hereditary cancer-predisposing syndrome 2015-07-01 criteria provided, single submitter clinical testing The c.884delAins11 pathogenic mutation, located in coding exon 8 of the BMPR1A gene, results from the deletion of one nucleotide and insertion of 11 nucleotides causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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