Table 3 Number of variants in each pathogenicity class observed in the present data set

From: Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series

N variants

Deleterious

Likely deleterious

Novel DVs

Possible

Uncertain

Likely benign

Benign

Risk Factor

Synonymous

Total N cohort

Early-Onset

AD

38 (4.6%)

19 (2.3%)

12 (1.5%)

34 (4.2%)

70 (8.6%)

39 (4.8%)

545 (66.6%)

147 (18%)

1957 (239.2%)

818

FTD

112 (23%)

10 (2.1%)

14 (2.9%)

13 (2.7%)

65 (13.3%)

24 (4.9%)

314 (64.5%)

81 (16.6%)

1364 (280.1%)

487

Prion

57 (35%)

1 (0.6%)

0 (0%)

4 (2.5%)

2 (1.2%)

5 (3.1%)

93 (57.1%)

29 (17.8%)

563 (345.4%)

163

DemMot

19 (4.3%)

4 (0.9%)

2 (0.4%)

14 (3.1%)

20 (4.5%)

24 (5.4%)

278 (62.2%)

82 (18.3%)

1221 (273.2%)

447

Controls

0 (0%)

0 (0%)

0 (0%)

0 (0%)

0 (0%)

47 (1175%)

5 (125%)

2 (50%)

17 (425%)

4

Total

226 (11.8%)

34 (1.8%)

29 (1.5%)

65 (3.4%)

157 (8.2%)

139 (7.2%)

1234 (64.3%)

341 (17.8%)

5122 (266.9%)

1919

Late-Onset

AD

9 (4%)

4 (1.8%)

3 (1.3%)

12 (5.3%)

9 (4%)

91 (40.3%)

166 (73.5%)

39 (17.3%)

698 (308.8%)

226

FTD

16 (9.9%)

2 (1.2%)

3 (1.9%)

6 (3.7%)

20 (12.3%)

59 (36.4%)

84 (51.9%)

34 (21%)

451 (278.4%)

162

Prion

5 (7.5%)

1 (1.5%)

0 (0%)

2 (3%)

1 (1.5%)

17 (25.4%)

29 (43.3%)

21 (31.3%)

204 (304.5%)

67

DemMot

2 (1.1%)

1 (0.6%)

0 (0%)

8 (4.5%)

6 (3.4%)

85 (48.3%)

100 (56.8%)

17 (9.7%)

471 (267.6%)

176

Controls

2 (0.4%)

0 (0%)

0 (0%)

5 (1.1%)

12 (2.7%)

3 (0.7%)

314 (70.1%)

49 (10.9%)

1415 (315.8%)

448

Total

34 (3.2%)

8 (0.7%)

6 (0.6%)

33 (3.1%)

48 (4.4%)

254 (23.5%)

690 (63.9%)

160 (14.8%)

3239 (300.2%)

1079

All Ages

AD

48 (4.6%)

23 (2.2%)

15 (1.4%)

46 (4.4%)

79 (7.5%)

130 (12.4%)

717 (68.2%)

187 (17.8%)

2676 (254.4%)

1052

FTD

155 (19.5%)

14 (1.8%)

20 (2.5%)

24 (3%)

107 (13.5%)

99 (12.5%)

500 (63%)

132 (16.6%)

2262 (284.9%)

794

Prion

82 (27.4%)

3 (1%)

1 (0.3%)

6 (2%)

6 (2%)

35 (11.7%)

162 (54.2%)

67 (22.4%)

999 (334.1%)

299

DemMot

22 (3.4%)

5 (0.8%)

3 (0.5%)

23 (3.6%)

32 (5%)

119 (18.6%)

387 (60.6%)

106 (16.6%)

1750 (273.9%)

639

Controls

2 (0.4%)

0 (0%)

0 (0%)

5 (1.1%)

12 (2.6%)

51 (11.2%)

321 (70.2%)

54 (11.8%)

1447 (316.6%)

457

Total (% of patients)

309 (9.5%)

45 (1.4%)

39 (1.2%)

104 (3.2%)

236 (7.3%)

435 (13.4%)

2087 (64.4%)

546 (16.8%)

9134 (281.8%)

3241

  1. The total number of variants in each variant pathogenicity class identified in each of the respective cohorts is shown as well as a percentage of the number of cases in each cohort for those of uncertain or at least possible pathogenicity. In 243 patient and control samples we could not be certain of age at onset, therefore the sum of Early and Late-Onset does not equal All Ages. A DV was identified in two healthy elderly control samples; one elderly male carried the PRNP Gln212Pro variant and one elderly male was found to carry a frameshift mutation in GRN (c.708 + 5_708 + 8delGTGA) affecting a splice-site.
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