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Table 1 Summary of SDHAF3 c.157 T > C (p.Phe53Leu) variant analysis in familial and suspected sporadic pheochromocytoma and/or paraganglioma

From: Analysis of SDHAF3 in familial and sporadic pheochromocytoma and paraganglioma

Cohort SDHAF3 p.Phe53 germline allele count (T) SDHAF3 p.Phe53Leu germline allele count (C) MAF p valuea (Australian) p valuea (1000Genomesb) p valuea (ExACc)
Disease-affected
All disease-affected (familial and sporadic; n = 38; alleles = 76) 71 5 0.0658 0.300 0.003 0.022
 Apparently sporadic (n = 15; alleles = 30) 27 3 0.1000 0.098 0.006 0.025
 Unrelated SDH-mutation carrier with disease (n = 23; alleles = 46) 44 2 0.0435 0.646 0.106 0.251
 Unrelated SDHB-mutation carrier with disease (n = 16; alleles = 32) 30 2 0.0625 0.603 0.057 0.144
Disease-free
Australian (n = 100; alleles = 200) 194 6 0.0300    
1000Genomes_Phase 3_ALLb (n = 2504; alleles = 5008) 4949 59 0.0118 0.038   
ExACc (n = 60,422; alleles = 120,844) 118,315 2529 0.0209 0.452 <0.0001  
  1. aPearson chi-square test; bThe 1000 Genomes Project Consortium (2015) A global reference for human genetic variation Nature 526:68–74; cLek et al. (2016) Analysis of protein coding genetic variation in 60,706 humans. Nature 536:285–291