ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.869-4A>C (rs964020576)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568740 SCV000668322 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000578607 SCV000681011 uncertain significance not provided 2018-02-01 criteria provided, single submitter clinical testing This variant is denoted BMPR1A c.869-4A>C or IVS9-4A>C and consists of an A>C nucleotide substitution at the -4 position of intron 9 of the BMPR1A gene. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. This variant was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). The adenine (A) nucleotide that is altered is conserved in mammals. In silico splicing models are uninformative; therefore, in the absence of RNA or functional studies, the actual effect of this variant is unknown. Based on currently available information, it is unclear whether BMPR1A c.869-4A>C is pathogenic or benign. We consider it to be a variant of uncertain significance.
Invitae RCV000635488 SCV000756902 uncertain significance Juvenile polyposis syndrome 2018-12-04 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the BMPR1A gene. It does not directly change the encoded amino acid sequence of the BMPR1A protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BMPR1A-related disease. 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. 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.

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