Table 4.
Somatic variants identified in adrenal lesions associated with unilateral primary aldosteronism.
| Gene | Nucleotide change1 | Aminoacid change1 | Region | Reference(first report) |
|---|---|---|---|---|
| KCNJ5 | c.451G>A | p.(Gly151Arg) | Exon 2 | Choi et al., 2011 (23) |
| c.503T>G | p.(Leu168Arg) | |||
| c.433G>C | p.(Glu145Gln) | Akestrom et al., 2012 (69) | ||
| c.472A>G | p.(Thr158Ala) | Mulatero et al., 2012 (38) | ||
| c.451G>C | p.(Gly151Arg) | Taguchi et al., 2012 (70) | ||
| c.467_469del | p.(Ile157del) | Azizan et al., 2012 (58) | ||
| c.433G>A | p.(Glu145Lys) | Azizan et al., 2013 (61) | ||
| c.446insAAC | p.(Thr149_Ile150insThr) | Kuppusami et al., 2014 (71) | ||
| c.376T>C | p.(Trp126Arg) | Williams et al., 2014 (72) | ||
| c.461T>G | p.(Phe154Cys) | Scholl et al., 2015 (73) | ||
| c.470_471delinsAA | p.(Ile157Lys) | |||
| c.450_451insATG | p.(Ile150_Gly151insMet) | |||
| c.433_434insCCATTG | p.(Ile144_Glu145insAlaIle) | |||
| c.445_446insGAA | p.(Thr148_Thr149insArg) | Zheng et al., 2015 (74) | ||
| c.439G>C and c.448_449insCAACAACCA | p.(Glu147Gln) and p.(Thr149_Ile150insThrThrThr) | Wang et al., 2015 (75) | ||
| c.457_492dup | p.(Gly153_Gly164dup) | |||
| c.343C>T | p.(Arg115Trp) | Cheng et al., 2015 (76) | ||
| c.737A>G | p.(Glu246Gly) | |||
| c.445A>T | p.(Thr149Ser) | Nanba et al., 2016 (77) | ||
| c.443C>T | p.(Thr148Ile) | |||
| c.432_439delinsCA | p.(Glu145_Glu147delinsLys) | Zheng et al., 2017 (78) | ||
| c.414_425dup | p.(Ala139_Phe142dup) | Hardege et al., 2015 (79) | ||
| – | p.(Gly184Glu)* | Kitamoto et al., 2018 (80) | ||
| – | p.(Ile157_Glu159del)* | |||
| – | p.(Gly151_Tyr152del)* | |||
| c.420C>G | p.(Phe140Leu) | Nanba et al., 2018 (81) | ||
| c.447_448insATT | p.(Thr149delinsThrIle) | |||
| c.445_446insTGG | p.(Thr149delinsMetAla) | Nanba et al., 2019 (62) | ||
| CACNA1D | c.4007C>G | p.(Pro1336Arg) | Exon 32 | Azizan et al., 2013 (61) |
| c.4062G>A | p.(Met1354Ile) | |||
| c.2239T>C | p.(Phe747Leu) | Exon 16 | ||
| c.2969G>A | p.(Arg990His) | Exon 23 | ||
| c.776T>A | p.(Val259Asp) | Exon 6 | ||
| c.2241C>G | p.(Phe747Leu) | Exon 16 | ||
| c.2250C>G | p.(Ile750Met) | Scholl et al., 2013 (25) | ||
| c.4012G>A | p.(Val1353Met) | Exon 33 | ||
| c.2239T>G | p.(Phe747Val) | Exon 16 | ||
| c.1207G>C | p.(Gly403Arg) | Exon 8A | ||
| c.1955C>T | p.(Ser652Leu) | Exon 14 | Fernandes-Rosa et al., 2014 (56) | |
| c.2222A>G | p.(Tyr741Cys) | Exon 16 | ||
| c.2993C>T | p.(Ala998Val) | Exon 23 | ||
| c.3455T>A | p.(Ile1152Asn) | Exon 27 | ||
| c.3451G>T | p.(Val1151Phe) | |||
| c.2936T>A | p.(Val979Asp) | Exon 23 | ||
| c.1964T>C | p.(Leu655Pro) | Exon 14 | ||
| c.2943G>C | p.(Val981Asn) | Exon 23 | ||
| c.2248A>T | p.(Ile750Phe) | Exon 16 | ||
| c.2992_2993delinsAT | p.(Ala998Ile) | Exon 23 | ||
| c.2182G>A | p.(Val728Ile) | Exon 15 | Wang et al., 2015 (75) | |
| c.2240T>G | p.(Phe747Cys) | Exon 16 | Nanba et al., 2016 (82) | |
| c.3458T>G | p.(Val1153Gly) | Exon 27 | Tan et al., 2017 (83) | |
| c.776T>G | p.(Val259Gly) | Exon 6 | Nanba et al., 2018 (81) | |
| c.1201G>C | p.(Val401Leu) | Exon 8 | Akerstrom et al., 2015 (84) | |
| c.1229C>T | p.(Ser410Leu) | Exon 9 | Backman et al., 2019 (85) | |
| c.3019T>C | p.(Cys1007Arg) | Exon 24 | Nanba et al., 2019 (62) | |
| c.3044T>G | p.(Ile1015Ser) | |||
| c.926T>C | p.(Val309Ala) | Exon 7 | ||
| c.2978G>C | p.(Arg993Thr) | Exon 23 | ||
| c.2968C>G | p.(Arg990Gly) | |||
| c.1856G>C | p.(Arg619Pro) | Exon 13 | ||
| c.3452T>C | p.(Val1151Ala) | Exon 27 | Guo et al., 2020 (86) | |
| c.2240T>C | p.(Phe747Ser) | Exon 16 | ||
| c.2261A>G | p.(Asn754Ser) | |||
| c.2978G>T | p.(Arg993Met) | Exon 23 | ||
| c.2906C>T | p.(Ser969Leu) | Exon 22 | Nanba et al., 2020 (87) | |
| c.3044T>C | p.(Ile1015Thr) | Exon 24 | De Sousa et al., 2020 (88) | |
| ATP1A1 | c.311T>G | p.(Leu104Arg) | Exon 4 | Beuschlein et al., 2013 (59) |
| c.299_313del | p.(Phe100_Leu104del) | |||
| c.995T>G | p.(Val332Gly) | Exon 8 | ||
| c.2878_2887delinsT | p.(Glu960_Ala963delinsSer) | Exon 21 | Azizan et al., 2013 (61) | |
| c.295G>A | p.(Gly99Arg) | Exon 4 | Williams et al., 2014 (72) | |
| c.306_317del | p.(Met102_Trp105del) | Akerstrom et al., 2015 (84) | ||
| c.304_309del | p.(Met102_Leu103del) | |||
| c.308_313del | p.(Leu103_Leu104del) | |||
| c.2867_2882delinsG | p.(Phe956_Glu961delinsTrp) | Exon 21 | ||
| c.2877_2882del | p.(Phe959_Glu961delinsLeu) | |||
| c.2879_2890del | p.(Glu960_Leu964delinsVal) | |||
| c.2864_2878del | p.(Ile955_Glu960delinsLys) | Nanba et al., 2019 (62) | ||
| c.2878_2892delinsGCCGTG | p.(Glu960_Leu964delinsAlaVal) | Nanba et al., 2018 (81) | ||
| c.2874_2882del | p.(Phe959_Glu961del) | Guo et al., 2020 (86) | ||
| c.2877_2888del | p.(Glu960_Ala963del) | |||
| c.2878_2895delinsGCCCTGGTT | p.(Glu960_Ala965delinsAlaLeuVal) | Nanba et al., 2020 (87) | ||
| ATP2B3 | c.1272_1277del | p.(Leu425_Val426del) | Exon 8 | Beuschlein et al., 2013 (59) |
| c.1277_1282del | p.(Val426_Val427del) | |||
| c.1273_1278del | p.(Leu425_Val426del) | |||
| c.1270_1275del | p.(Val424_Leu425del) | Fernandes-Rosa et al., 2014 (56) | ||
| c.1277_1298delinsACA | p.(Val426Aspfs*10) | Scholl et al., 2015 (73) | ||
| c.1264_1278delinsAGCACACTC | p.(Val422_Val426delinsSerThrLeu) | Zheng et al., 2015 (74) | ||
| c.1276_1287del | p.(Val426_Val429del) | Akerstrom et al., 2015 (84) | ||
| c.1228T>G | p.(Tyr410Asp) | Wu et al., 2015 (89) | ||
| c.1269_1274del | p.(Val424_Leu425del) | Murakami et al., 2015 (90) | ||
| c.1279_1284del | p.(Val427_Ala428del) | Kitamoto et al., 2016 (60) | ||
| c.1281_1286del | p.(Ala428_Val429del) | Dutta et al., 2014 (91) | ||
| c.1264_1275delinsATCACT | p.(Val422_Leu425delinsIleThr) | Nanba et al., 2018 (81) | ||
| c.367G>C | p.(Gly123Arg) | Exon 2 | Backman et al., 2019 (85) | |
| CACNA1H | c.4289T>C | p.(Ile1430Thr) | Exon 22 | Nanba et al., 2020 (67) |
| CLCN2 | c.71G>A | p.(Gly24Asp) | Exon 2 | Dutta et al., 2019 (65) |
| c.64-2_74del | p.(Met22fs) | Rege et al., 2020 (66) |
1 RefSeq reference transcript: NM_000890.5 (KCNJ5)/NM_001128839.3 (CACNA1D)/NM_000701.8 (ATP1A1)/NM_001001344.2 (ATP2B3)/
NM_004366.6 (CLCN2)/NM_021098.3 (CACNA1H); * Nucleotide change not provided by authors.