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Table 3 Summarization of RUNX2 gene variants in seven children with CCD

From: Identification of RUNX2 variants associated with cleidocranial dysplasia

Proband ID Variant location Variant type Variant source Literature report Bioinformatic prediction ACMG classification
MutationTaster SIFT PolyPhen-2
Family_A_II1 NM_001024630.3: c.577C > T, p.Arg193* (Het) Stopgain De novo Hum Mol Genet. 1999;8 (12):2311–6. Disease causing NA NA Pathogenic
Family_B_II1 NM_001024630.3: c.574G > A, p.Gly192Arg (Het) Missense De novo J Hum Genet. 2005;50 (12):679–83. Disease causing Damaging Probably damaging Pathogenic
Family_C_II1 NM_001024630.3: c.673 C > T, p.Arg225Trp (Het) Missense De novo Am J Hum Genet. 1999;65 (5):1268–78. Disease causing Damaging Probably damaging Pathogenic
Family_D_II1 NM_001024630.3: c.722_725delTGTT, p.Leu241Serfs*8 (Het) Frameshift De novo _ Disease causing NA NA Pathogenic
Family_E_II1 NM_001024630.3: c.231_232delTG, Ala78Glyfs*82 (Het) Frameshift De novo _ Disease causing NA NA Pathogenic
Family_F_III1 NM_001024630.3: c.909C > G, p.Tyr303* (Het) Stopgain Paternal inheritance _ Disease causing NA NA Pathogenic
Family_G_III1 NM_001024630.3: c.668G > T, p.Gly223Val (Het) Missense Maternal inheritance _ Disease causing Damaging Probably damaging Likely pathogenic
  1. NA Not available; * the stop codon