Table 2 Comparison of ARVC allele counts (AC) of the pathogenic variants when using the overall gnomAD frequency (Global) and the cross-ethnic frequency (i.e. common/rare in at least one of the ethnic groups).

From: Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database

 

Global

In at least one ethnic group

 

Common AC

Rare AC

Common AC

Rare AC

(A) MAF cut-off 0.001

DSC2

0

374

207

167

DSG2

0

250

141

109

DSP

0

499

403

96

PKP2

631

523

987

167

TOTAL

631

1646

1738

539

(B) MAF cut-off 0.0001

DSC2

325

49

336

38

DSG2

171

79

209

41

DSP

403

96

472

27

PKP2

965

189

1096

58

TOTAL

1864

413

2113

164

  1. Two different MAF thresholds were used: (A) MAF ≥ 0.001 for common variants; (B) MAF ≥ 0.0001 for common variants. The overall prevalence of the ARVC genotype in 138,632 gnomAD individuals is 1 in 257, when using the MAF = 0.001 threshold, and 1 in 845 when the MAF = 0.0001 threshold was used. The reference sequences used were as follows: DSC2: ENST00000280904.10 (NM_024422), DSG2: ENST00000261590.12 (NM_001943), DSP: ENST00000379802.7 (NM_004415), JUP: ENST00000393931.7 (NM_002230) and PKP2: ENST00000070846.10 (NM_004572)
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