Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report

BMC Medical Genetics

Table 1 Missense Variants of BMPR1A gene identified in JPS patients

Nucleotide variant	dbSNP number	Protein change	ACMG guideline [7]	Pathogenicity	Ref
c.1A > C	rs786203157	p.Met1Leu	PM2 PP3	VUS	[13]
c.4C > A	rs11528010	p.Pro2Thr	BA1	benign	[10]
c.170C > G	rs1057517610	p.Pro57Arg	PM2 PP3	VUS	[6, 13, 14]
c.184 T > G	/	p.Tyr62Asp	PM2 PP3	VUS	[6, 14, 15]
c.233C > T	rs1064793490	p.Thr78Ile	PM2 PP1 PP3	VUS	[6, 13, 16]
c.238G > A	/	p.Gly80Arg	PM2	VUS	[17]
c.245G > A	/	p.Cys82Tyr	PM2 PP3	VUS	[6, 13, 15]
c.299G > A	/	p.Cys100Tyr	PS2 PM2 PP1 PP3	likely pathogenic	this study
c.355C > T	rs587782494	p.Arg119Cys	PM2	VUS	[17]
c.359G > C	/	p.Arg120Pro	PM2 PP3	VUS	[18]
c.370 T > C	rs199476087	p.Cys124Arg	PM2	VUS	[19]
c.373 T > G	rs1131691180	p.Cys125Gly	PM2 PP3	VUS	[18]
c.385 T > A	/	p.Leu129Ile	PM2 BP4	VUS	[18]
c.388 T > C	rs1131691168	p.Cys130Arg	PM2 PP3	VUS	[17, 20]
c.524G > A	rs370091063	p.Cys175Tyr	PP3 BP6	VUS	[21]
c.761G > A	rs766908700	p.Arg254His	PP3 BS2	VUS	[13]
c.872 T > C	/	p.Phe291Ser	PM2 PP3	VUS	[18]
c.955 T > C	/	p.Leu332Pro	PM2 PP3	VUS	[22]
c.1013C > A	rs199476086	p.Ala338Asp	PM2 PP3	VUS	[6, 15, 19]
c.1058A > G	rs1405441693	p.Gln353Arg	PM2 PP3	VUS	[22]
c.1127G > A	rs199476088	p.Cys376Tyr	PM2 PP3	VUS	[19]
c.1229C > T	/	p.Pro410Leu	PM2	VUS	[17]
c.1231G > A	rs786202611	p.Glu411Lys	PM2 PP3	VUS	[23]
c.1242G > A	rs140592056	p.Glu415Lys	PP3	VUS	[18]
c.1327C > T	rs35619497	p.Arg443Lys	PP3 PP5 BP6	VUS	[6, 13, 15, 18]
c.1328G > A	rs876659155	p.Arg443His	PS2 PM2 PP3	likely pathogenic	[24]
c.1409 T > C	rs199476089	p.Met470Thr	PM2 PP3	VUS	[25]
c.1433G > A	rs113849804	p.Arg478His	PP3	VUS	[22]
c.1438C > T	rs876658515	p.Arg480Trp	PM2 PM5 PP3	VUS	[10]

ISSN: 1471-2350