Table 1 Variants defined as secondary findings according to the ACMG recommendations for the reportable gene list
From: Secondary findings in 421 whole exome-sequenced Chinese children
Category | Gene | Variants | Evidence | Associated condition | Group | RCFs |
|---|---|---|---|---|---|---|
Pathogenic variants: | ||||||
 KP | APOB | NM_000384: exon26:c.10579C>T p.Arg3527Trp | PS3, PS4, PP3 | Familial hypercholesterolemia | Normal/CHD | LDL-c 7.16 mmol/L 2.46 mmol/L |
 KP | BRCA2 | NM_000059: exon11: c.2806-2809del p.Lys936fs | PVS1, PS4, PM2 | Hereditary breast and ovarian cancer | Obesity | None |
 KP | DSP | NM_004415: exon2: c.268C>T p.Gln90Term | PVS1, PM2, PP3 | Arrhythmogenic right ventricular cardiomyopathy | Obesity | None |
 KP | MYH7 | NM_000257: exon18: c.1988G>A p.Arg663His | PS4, PP1_Strong, PM1, PM2, PP3 | Hypertrophic cardiomyopathy, dilated cardiomyopathy | Normal | None |
 KP | MYH7 | NM_000257: exon13: c.1207C>T p.Arg403Trp | PS4, PP1_Strong, PM1, PM2, PM5, PP3 | Hypertrophic cardiomyopathy, dilated cardiomyopathy | Normal | None |
 KP | PMS2 | NM001322010: exon8: c.498+2T>C | PVS1, PS3, PM2, PP3 | Lynch syndrome | CHD | None |
 KP | SDHB | NM_003000: exon7: c.724C>T p.Arg242Cys | PS4, PM2, PM5, PP3, PS3_Supporting | Hereditary paraganglioma-pheochromocytoma syndrome | CHD | None |
Likely pathogenic variants: | ||||||
 KP | LDLR | NM_000527: exon4:c.459delC p.Phe153fs | PVS1, PM2 | Familial hypercholesterolemia | Normal | LDL-c 5.13 mmol/L |
 KP | MYH7 | NM_000257: exon22: c.2608C>T p.Arg870Cys | PM1, PM2, PM5, PP3, PS4_Supporting | Hypertrophic cardiomyopathy, dilated cardiomyopathy | Obesity | None |
 EP | BRCA2 | NM_000059: exon11: c.2944_2945del p.Ile982fs | PVS1, PM2 | Hereditary breast and ovarian cancer | Normal | None |
 EP | FBN1 | NM_000138: exon25: c.3042dupT p.Ala1015fs | PVS1, PM2 | Marfan syndrome, Loeys-Dietz syndromes, familial thoracic aortic aneurysms and dissections | Normal | None |