ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.1061del (p.Gly354fs)

dbSNP: rs1554891089
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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 RCV000569032 SCV000668342 pathogenic Hereditary cancer-predisposing syndrome 2024-01-10 criteria provided, single submitter clinical testing The c.1061delG pathogenic mutation, located in coding exon 8 of the BMPR1A gene, results from a deletion of one nucleotide at nucleotide position 1061, causing a translational frameshift with a predicted alternate stop codon (p.G354Efs*10). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration has been reported in multiple patients with juvenile polyposis syndrome (Sayed MG et al. Ann. Surg. Oncol., 2002 Nov;9:901-6; van Hattem WA et al. Gut, 2008 May;57:623-7; Calva-Cerqueira D et al. Clin. Genet., 2009 Jan;75:79-85). In addition to the clinical data presented in the literature, 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. RCV003458464 SCV004186021 pathogenic Juvenile polyposis syndrome 2023-11-14 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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