ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.1166+5G>A

dbSNP: rs1843629187
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001068163 SCV001233255 uncertain significance Juvenile polyposis syndrome 2019-12-01 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with BMPR1A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 10 of the BMPR1A gene. It does not directly change the encoded amino acid sequence of the BMPR1A protein, but it affects a nucleotide within the consensus splice site of the intron.
Ambry Genetics RCV002327355 SCV002627365 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-01 criteria provided, single submitter clinical testing The c.1166+5G>A intronic variant results from a G to A substitution 5 nucleotides after coding exon 8 in the BMPR1A gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV001068163 SCV004171493 uncertain significance Juvenile polyposis syndrome 2023-10-20 criteria provided, single submitter clinical testing The BMPR1A c.1166+5G>A intronic change results from a G to A substitution at the +5 position of intron 10 of the BMPR1A gene. Algorithms that predict the impact of sequence changes on splicing indicate that this variant does not affect splicing, but to our knowledge these predictions have not been confirmed by RNA studies. This variant is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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