ClinVar Miner

Submissions for variant NM_001202.6(BMP4):c.857G>A (p.Arg286Gln)

dbSNP: rs550226363
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001322566 SCV001513443 uncertain significance Microphthalmia with brain and digit anomalies; Orofacial cleft 11 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 286 of the BMP4 protein (p.Arg286Gln). This variant is present in population databases (rs550226363, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with BMP4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1022631). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV001322566 SCV002791762 uncertain significance Microphthalmia with brain and digit anomalies; Orofacial cleft 11 2022-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002545112 SCV003687362 uncertain significance Inborn genetic diseases 2020-10-30 criteria provided, single submitter clinical testing The c.857G>A (p.R286Q) alteration is located in exon 4 (coding exon 2) of the BMP4 gene. This alteration results from a G to A substitution at nucleotide position 857, causing the arginine (R) at amino acid position 286 to be replaced by a glutamine (Q). Based on data from the Genome Aggregation Database (gnomAD) database, the BMP4 c.857G>A alteration was observed in 0.0004% (1/250582) of total alleles studied. This amino acid position is well conserved in available vertebrate species. The p.R286Q alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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