Table 3 Genotype of the CFC patients and in silico evaluation of novel variants in this study
From: Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients
Gene | Case (n) | Refseq | Exon | DNA change | Protein change | Origin of variant | MAF (gnomAD) | Mutation taster | PolyPhen-2 | SIFT | ACMG classification |
|---|---|---|---|---|---|---|---|---|---|---|---|
BRAF | 5 | NM_004333.5 | 6 | c.770A > G | p.Gln257Arg | de novo | 0.000 | Disease causing | Probably damaging | Deleterious | Pathogenic |
BRAF | 2 | NM_004333.5 | 16 | c.1914T > G/A | p.Asp638Glu | de novo | 0.000 | Disease causing | Probably damaging | Deleterious | Pathogenic |
BRAF | 1 | NM_004333.5 | 6 | c.769C > A | p.Gln257Lys | de novo | 0.000 | Disease causing | Probably damaging | Deleterious | Pathogenic |
BRAF | 1 | NM_004333.5 | 12 | c.1502A > G | p.Glu501Gly | de novo | 0.000 | Disease causing | Probably damaging | Deleterious | Pathogenic |
BRAF | 1 | NM_004333.5 | 6 | c.784C > A | p.Gln262Lys | de novo | 0.000 | Disease causing | Probably damaging | Deleterious | Pathogenic |
BRAF | 1 | NM_004333.5 | 6 | c.730A > C | p.Thr244Pro | de novo | 0.000 | Disease causing | Probably damaging | Deleterious | Pathogenic |
MAP2K1 | 5 | NM_002755.3 | 3 | c.389A > G | p.Tyr130Cys | de novo | 0.000 | Disease causing | Probably damaging | Deleterious | Pathogenic |
MAP2K1 | 1 | NM_002755.3 | 3 | c.383G > T | p.Gly128Val | de novo | 0.000 | Disease causing | Probably damaging | Deleterious | Pathogenic |
MAP2K1 | 1 | NM_002755.3 | 2 | *c.161T > C | *p.Leu54Pro | de novo | 0.000 | Disease causing | Probably damaging | Deleterious | Likely pathogenic |
MAP2K2 | 1 | NM_030662.4 | 2 | c.181A > G | p.Lys61Glu | de novo | 0.000 | Disease causing | Probably damaging | Deleterious | Pathogenic |
MAP2K2 | 1 | NM_030662.4 | 3 | *c.418G > C | *p.Asp140His | de novo | 0.000 | Disease causing | Probably damaging | Deleterious | Uncertain significance |