SDHA-C variants in cases from cohorts 1 (Aus) and 2 (UK) and also present in ExAC
| Gene | Variants† | LOVD ID (26) | Number of probands (allele frequencies, %) | Allele frequencies in ExAC (-TCGA) | |||
| Aus (n=575) | UK (n=1240) | Combined, % | Total, % | European (non-Finnish), % | |||
| SDHA | c.91C>T, p.Arg31* | SDHA_000013 | 3 (0.26) | n/a | 0.014 | 0.026 | |
| c.512G>A, p.Arg171His | Novel | 1 (0.087) | n/a | 0.0009 | 0 | ||
| Non-ExAC variants | 5 (0.43) | ||||||
| Total | 9 (0.78) | n/a | 0.78 | 0.015 | 0.022 | ||
| SDHB | c.79C>T, p.Arg27* | SDHB_000150 | 2 (0.17) | 8 (0.32) | 0.28 | 0.001 | 0 |
| c.88delC, p.Gln30Argfs*47 | SDHB_000017 | 3 (0.26) | 7 (0.28) | 0.28 | 0.0009 | 0.0018 | |
| c.136C>T, p.Arg46* | SDHB_000021 | 4 (0.35) | 11 (0.44) | 0.41 | 0.0019 | 0.0018 | |
| c.268C>T, p.Arg90* | SDHB_000001 | 14 (1.2) | 8 (0.32) | 0.61 | 0.001 | 0.0019 | |
| c.423+1G>A | SDHB_000047 | 2 (0.17) | 3 (0.12) | 0.14 | 0.0009 | 0.0018 | |
| c.343C>T, p.Arg115* | SDHB_000042 | 0 (0) | 6 (0.24) | 0.17 | 0.0019 | 0.0037 | |
| c.649C>G, p.Arg217Gly | novel | 0 (0) | 1 (0.04) | 0.028 | 0.001 | 0.002 | |
| c.688C>T, p.Arg230Cys | SDHB_000058 | 0 (0) | 1 (0.04) | 0.028 | 0.0009 | 0.0018 | |
| c.725G>A, p.Arg242His | SDHB_000004 | 5 (0.43) | 3 (0.12) | 0.22 | 0.0028 | 0.0018 | |
| Non-ExAC variants | 60 (5.2) | 239 (9.6) | 8.20 | ||||
| Total | 90 (7.8) | 287 (11.6) | 10.0 | 0.012 | 0.014 | ||
| SDHC | c.77+2dupT | SDHC_000049 | 0 (0) | 1 (0.04) | 0.028 | 0.0009 | 0.0018 |
| c.397C>T, p.Arg133* | SDHC_000015 | 1 (0.087) | 5 (0.2) | 0.17 | 0.0028 | 0.0018 | |
| Non-ExAC variants | 6 (0.52) | 24 (0.97) | 0.83 | ||||
| Total | 7 (0.61) | 30 (1.2) | 1.0 | 0.0038 | 0.0029 | ||
†RefSeq: for SDHA NG_012339.1, NM_004168.3; for SDHB NG_012340.1, NM_003000.2; for SDHC NG_012767.1, NM_003001.3.
ExAC, Exome Aggregate Consortium; SDHx, succinate dehydrogenase subunits A, B and C; TCGA, The Cancer Genome Atlas.
Bold values are totals.