Table 1. Open in new tab Rare allelic...

Table 1.

Rare allelic variants of MKRN3 identified in patients with CPP from a Spanish cohort

Variant		Phenotype
cDNA	Protein	Allelic frequency^a	Familial segregation	Previous description in CPP	ACMG classification	Sex	Chronological age of puberty onset	Bone age advancement
c.1249T>C (rs745560329)	p.Phe417Leu	MAF < 0.01	Father	(21)	Pathogenic	Female	6.8	1.1
c.724C>T (rs1277371835)	p.Arg242Trp	MAF < 0.001	NA	NA	Pathogenic	Female	6.8	2.6
c.475_476insC (rs763195944)	p.Ala162Glyfs	MAF < 0.01	Father	(1)	Pathogenic	Female	6.5	2.1
c.1252T>C (rs1470111765)	p.Tyr418His	MAF < 0.001	Father	NA	Likely pathogenic	Female	6.4	0.5
c.890T>C (rs147605349)	p.Met297Arg	MAF < 0.01	Father	NA	Likely pathogenic	Female	7.3	1.7

Variant		Phenotype
cDNA	Protein	Allelic frequency^a	Familial segregation	Previous description in CPP	ACMG classification	Sex	Chronological age of puberty onset	Bone age advancement
c.1249T>C (rs745560329)	p.Phe417Leu	MAF < 0.01	Father	(21)	Pathogenic	Female	6.8	1.1
c.724C>T (rs1277371835)	p.Arg242Trp	MAF < 0.001	NA	NA	Pathogenic	Female	6.8	2.6
c.475_476insC (rs763195944)	p.Ala162Glyfs	MAF < 0.01	Father	(1)	Pathogenic	Female	6.5	2.1
c.1252T>C (rs1470111765)	p.Tyr418His	MAF < 0.001	Father	NA	Likely pathogenic	Female	6.4	0.5
c.890T>C (rs147605349)	p.Met297Arg	MAF < 0.01	Father	NA	Likely pathogenic	Female	7.3	1.7

Abbreviations: ACMG, American College of Medical Genetics; CPP, central precocious puberty; MAF minor allele frequency; NA, not available

^aHighest minor allelic frequency observes including 1000 genome Phase 3, NHLBI Exome Sequencing Project and gnomAD.