ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.1150G>T (p.Ala384Ser)

dbSNP: rs1843628839
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001343546 SCV001537534 uncertain significance Juvenile polyposis syndrome 2024-08-19 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 384 of the BMPR1A protein (p.Ala384Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BMPR1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1039977). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on BMPR1A protein function. 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.
Sema4, Sema4 RCV002256746 SCV002528553 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-27 criteria provided, single submitter curation
Ambry Genetics RCV002256746 SCV003860372 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-13 criteria provided, single submitter clinical testing The p.A384S variant (also known as c.1150G>T), located in coding exon 8 of the BMPR1A gene, results from a G to T substitution at nucleotide position 1150. The alanine at codon 384 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV001343546 SCV004838250 uncertain significance Juvenile polyposis syndrome 2023-11-20 criteria provided, single submitter clinical testing This missense variant replaces alanine with serine at codon 384 of the BMPR1A protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with BMPR1A-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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