Table 1.
Patients with APC variants and their dental phenotypes.
| Families | Patients | Phenotypes |
APC Variants NM_000038.6; NP_000029.2 |
Prediction/Ranking |
|---|---|---|---|---|
| 1 | 1 (Female) |
Supernumerary erupted mandibular left premolar | c.3374T>C p.Val1125Ala chr5-112174665-T-C rs377278397 MAF: 0.0005993 |
MutationTaster: Disease causing Prob = 0.944130296883564 Polyphen-2: Benign; score = 0.001 SIFT: Tolerated; score = 0.244 CADD-PHRED score = 21.7 DANN: Benign; score = 0.9507 |
| 2 | 2 (Male) |
Mesiodens (Double with normal orientation) |
||
| 3 | 3 (Female) |
Mesiodens (Single; erupted) |
c.6127A>G p.Ile2043Val chr5-112177418-A-G rs876660233 MAF: 0.000007085 |
MutationTaster: Disease causing Prob = 0.999923872840111 Polyphen-2: Probably damaging; score = 0.958 SIFT: Damaging; score = 0.011 CADD-PHRED score = 24.9 DANN score = 0.9983 |
| 4 | Normal mother | No variants | MutationTaster: Disease causing Prob = 0.999223891277048 Polyphen-2: Probably damaging; score = 0.936 SIFT: Tolerated; score = 0.068 CADD-PHRED score = 22.2 DANN score = 0.9909 |
|
| 4 (Male) |
Mesiodens (Double; unerupted & inverted) |
c.8383G>A p.Ala2795Thr chr5-112179674-G-A rs369264968 MAF:0.00004400 |
||
| 5 (Male) |
Mesiodens (Double; both were erupted) |
|||
| Normal sister | No variants | |||
| 5 | 6 (Male) |
Mesiodens (Double; unerupted) One is inverted, the other had normal orientation |
Variant 1 c.2740T>G p.Cys914Gly chr5-112174031-T-G rs1554084426 Not reported in gnomAD Variant 2 c.5722A>T p.Asn1908Tyr chr5-112177013-A-T No rs number Not reported in gnomAD |
Variant 1 MutationTaster: Disease causing Prob = 0.99929839701033 Polyphen-2: Benign score = 0.055 SIFT: Tolerated; score = 0.127 CADD-PHRED score = 21.5 DANN score = 0.8956 Variant 2 MutationTaster: Polymorphism Prob = 0.999999988244843 Polyphen-2: Benign score = 0.214 SIFT: Damaging; score = 0.046 CADD-PHRED score = 17.19 DANN score = 0.9609 |