Table 1.

MKRN3 missense variants identified in patients with CPP and pathogenicity assessment through ACMG criteria

Position	cDNA	Protein	rs	Populationdata(AF)		ACMG criteria
				gnomAD	ABraOM	Detailed staging	Classification
15:23812024	c.1095G>T	p.Arg365Ser	rs879255240	0.000003976	Not reported	PS4, PM2, PP1, PP3, PP4, PP5	Pathogenic
15:23812178	c.1249T>A	p.Phe417Ile	NA	Not reported	Not reported	PS4, PM2, PP1, PP3, PP4, PP5	Pathogenic
15:23811132	c.203G>A	p.Arg68His	rs149274884	0.00001201	Not reported	PM2, PP1, PP2, PP4, PP5, BP4	Likely pathogenic
15:23811653	c.724C>T	p.Arg242Trp	rs1277371835	0.00001193	Not reported	PM2, PP1, PP2, PP4, BP4	Likely pathogenic
15:23811834	c.905C>T	p.Ala302Val	NA	Not reported	Not reported	PS4, PM2, PP1, PP3, PP4	Likely pathogenic
15:23811912	c.983G>A	p.Arg328His	rs1355723562	0.00006371	Not reported	PS4, PM2, PP1, PP3, PP4	Likely pathogenic
15:23811911	c.982C>T	p.Arg328Cys	rs1355723562	0.00006371	Not reported	PS4, PM2, PP1, PP3, PP4	Likely pathogenic
15:23812178	c.1249T>C	p.Phe417Leu	rs745560329	0.000003976	Not reported	PM2, PM5, PP1, PP2, PP4, BP4	Likely pathogenic
15:23812181	c.1252T>C	p.Tyr418His	rs1470111765	0.000003976	Not reported	PM2, PP2, PP1, PP2, PP3, PP4	Likely pathogenic
15:23811819	c.890T>C	p.Met297Arg	rs147605349	0.00001193	Not reported	PM2, PP1, PP2, PP3, PP4	Likely pathogenic

Abbreviations: AF, allele frequency; ACMG, American College of Medical Genetics and Genomics; gnomAD, Genome Aggregation Database; ABraOM, Online Archive of Brazilian Mutations; ACMG criteria are given according to reference number 10; PS4, pathogenic strong 4; PM2, pathogenic moderate 2; PM5, pathogenic moderate 5; PP1, pathogenic supporting 1; PP2, pathogenic supporting 2; PP3, pathogenic supporting 3; PP4, pathogenic supporting 4; PP5, pathogenic supporting 5; BP4, benign supporting 4.