Table 4 Variants of ABCC2 among infants with Dubin Johnson syndrome
From: Mutation spectrum and biochemical features in infants with neonatal Dubin-Johnson syndrome
Variant | Variant type | Allele frequency | Reported | ACMG classification | |
|---|---|---|---|---|---|
c.2302C > T; p.Arg768Trp | Missense | 4/12 (33.4%) | Known pathogenic | PS3, PM3, PM5, PP3, PP4 | Pathogenic |
c.298C > T; p.Arg100Ter | Nonsense | 2/12 (16.8%) | Known pathogenic | PVS1, PM3, PP4 | Pathogenic |
c.2439 + 2T > C | Splice-site disruption | 1/12 (8.3%) | Known pathogenic | PVS1, PS3, PM3, PP4 | Pathogenic |
c.351_355dup; p.Tyr119SfsTer34 | Frameshift | 1/12 (8.3%) | Known pathogenic | PVS1, PM2, PM3, PP4 | Pathogenic |
c.3928C > T; p.Arg1310Ter | Nonsense | 1/12 (8.3%) | Known pathogenic | PVS1, PM3, PP4 | Pathogenic |
c.2078 g > A; p.Gly693Glu | Missense | 1/12 (8.3%) | Novel | PM2, PM3, PP3, PP4 | Likely pathogenic |
c.1181C > G; p.Thr394Arg | Missense | 1/12 (8.3%) | Novel | PM2, PP3, PP4 | VUS |
c.2153A > G; p.Asn718Ser | Missense | 1/12 (8.3%) | Novel | PM2, PP3, PP4 | VUS |