Submissions for variant NM_004329.3(BMPR1A):c.1165A>T (p.Ser389Cys)

dbSNP: rs1589291828

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV001017491	SCV001178576	uncertain significance	Hereditary cancer-predisposing syndrome	2019-06-02	criteria provided, single submitter	clinical testing	The p.S389C variant (also known as c.1165A>T), located in coding exon 8 of the BMPR1A gene, results from an A to T substitution at nucleotide position 1165. The serine at codon 389 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice donor site; however, direct evidence is unavailable. 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.
GeneDx	RCV003313169	SCV004012229	uncertain significance	not provided	2023-01-06	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge