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 |