Family (proband) | Gene | Transcript | Nucleotide change | Amino acid change | SIFT | Polyphen2 | MutationTaster | M-CAP | PROVEAN | Pathogenicity (ACMG) | Evidence (ACMG) |
---|---|---|---|---|---|---|---|---|---|---|---|
Family 1 (II:1) | GJA8 | NM_005267.4 | c.154âTâ>âC | p.F52âL | Deleterious | Possibly damaging | Disease causing | Possibly Pathogenic | Deleterious | Likely Pathogenic | PM1âPM2 PP3 PP4 |
0.00 | 0.478 | â | 0.513 | â5.81 | â | â | |||||
Family 2 (II:1) | GJA3 | NM_021954.3 | c.1152_1153insG | p.S385Efs*83 | Not predicted | Not predicted | Disease causing | Not predicted | Not predicted | Pathogenic | PVS1 PP1 PP4 BP4 |
Family 3 (IV:1) | BFSP1 | NM_001195.3 | c.1804Gâ>âC | p.G602R | Deleterious | Possibly damaging | Polymorphism | Possibly Pathogenic | Neutral | Uncertain significance | PM2 PP1 PP4 |
0.02 | 0.472 | â | 0.308 | â1.03 | â | â | |||||
Family 4 (IV:1) | EPHA2 | NM_004431.3 | c.1532Câ>âT | p.T511âM | Deleterious | Probably damaging | Disease causing | Possibly Pathogenic | Deleterious | Uncertain significance | PM1âPM2 PP1 PP3 PP4 BS1 BS2 BP6 |
0.00 | 1.00 | â | 0.04 | â4.80 | â | â | |||||
Family 5 (IV:12) | HSF4 | NM_001538.3 | c. 356Gâ>âA | p. R119H | Deleterious | Probably damaging | Disease causing | Possibly Pathogenic | Deleterious | Pathogenic | PM1âPM2 PP1 PP2 PP3 PP4 BP1 |
0.00 | 1.00 | â | 0.259 | â4.81 | â | â |