ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.160del (p.Asp54fs)

dbSNP: rs1131691183
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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 RCV000492863 SCV000581501 pathogenic Hereditary cancer-predisposing syndrome 2024-11-20 criteria provided, single submitter clinical testing The c.160delG pathogenic mutation, located in coding exon 2 of the BMPR1A gene, results from a deletion of one nucleotide at nucleotide position 160, causing a translational frameshift with a predicted alternate stop codon (p.D54Ifs*6). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003762754 SCV004427030 pathogenic Juvenile polyposis syndrome 2022-12-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 429105). This variant has not been reported in the literature in individuals affected with BMPR1A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp54Ilefs*6) in the BMPR1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BMPR1A are known to be pathogenic (PMID: 11536076, 12417513).

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