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Gene Symbol TSC2
Synonyms LAM | PPP1R160 | TSC4
Gene Description TSC2, TSC complex subunit 2, forms a complex with Tsc1 and inhibits mTOR pathway signaling, thus regulating cell growth and metabolism (PMID: 27226234). Germline TSC2 inactivating mutations cause tuberous sclerosis complex and somatic TSC2 mutations have been identified in various cancers, including renal cell carcinoma, sarcoma, and breast cancer (PMID: 27226234, PMID: 30303819, PMID: 28860410, PMID: 28027327).
ACMG Incidental List v3.0:
Yes, Tuberous sclerosis complex (PMID: 34012068)
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
7249 16 16p13.3 NM_000548 Tumor suppressor (PMID: 30606230)

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Molecular Profile Protein Effect Treatment Approaches
TSC2 A1003fs loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 A1110T unknown
TSC2 A1141T unknown
TSC2 A1258R unknown
TSC2 A1294V unknown
TSC2 A1297T unknown
TSC2 A1349Gfs*64 loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 A1719T unknown
TSC2 A210T unknown
TSC2 A272T unknown
TSC2 A289V unknown
TSC2 A460T no effect - predicted
TSC2 A583T unknown
TSC2 A607E loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 A607T no effect
TSC2 A607V unknown
TSC2 A614D loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 A678T unknown
TSC2 A736V unknown
TSC2 A84T no effect - predicted
TSC2 A86T unknown
TSC2 amp no effect
TSC2 C256Y unknown
TSC2 C696Y loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 C811R unknown
TSC2 C900* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 D1004N unknown
TSC2 D1004Y unknown
TSC2 D1406N unknown
TSC2 D1512A loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 D1590N unknown
TSC2 D1598fs loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 D1598fs TSC2 D1690fs
TSC2 D1656N no effect
TSC2 D1656Y no effect - predicted
TSC2 D1690fs loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 D514Pfs*74 loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 del loss of function mTOR Inhibitor mTORC1 Inhibitor
PIK3CA act mut TSC2 del
TSC2 E114* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 E1343D unknown
TSC2 E134K unknown
TSC2 E138* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 E379G unknown
TSC2 E546K unknown
TSC2 E652fs loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 E74K unknown
TSC2 E96* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 F1510del unknown
TSC2 F15V unknown
TSC2 F1668L loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 F452L unknown
TSC2 F615S loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 G1055D unknown
TSC2 G1354D unknown
TSC2 G1416D no effect - predicted
TSC2 G1494D unknown
TSC2 G150K unknown
TSC2 G1544V loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 G1604C unknown
TSC2 G1791S unknown
TSC2 G294E loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 G305* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 G440S unknown
PTEN E235* TSC2 G440S
TSC2 G62E no effect - predicted
TSC2 G654Efs*45 loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 G676S unknown
TSC2 H1135R unknown
TSC2 H1617Y loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 H1718P loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 H1746_R1751del loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 H597N unknown
TSC2 I1197F loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 I1561Hfs*5 loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 I365del loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 I427_S428del unknown
TSC2 inact mut loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 K1065E unknown
TSC2 K1585R unknown
TSC2 K347Efs*36 loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 K599M unknown
TSC2 L1137F unknown
TSC2 L1198M unknown
TSC2 L1216I unknown
TSC2 L1504F unknown
TSC2 L1597Rfs*4 loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 L1750Afs*25 loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 L204V unknown
TSC2 L264Wfs*73 loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 L369P loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 L369R unknown
TSC2 L493V unknown
TSC2 L604P unknown
TSC1 M271T TSC2 L604P
TSC2 L688M unknown
TSC2 L916P loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 loss loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 M168I unknown
TSC2 M1691T unknown
TSC2 M280T loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 M286V no effect
TSC2 M649I unknown
TSC2 mutant unknown
TSC2 N1064Kfs*104 loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 N1214I unknown
TSC2 N1224I unknown
TSC2 N1643H loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 N1707S no effect - predicted
TSC2 N275del loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 N525S no effect
TSC2 P1092L unknown
TSC2 P1176fs loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 P1292A no effect - predicted
TSC2 P1497H unknown
ARID1B G169R TSC2 P1497H
TSC2 P1521T unknown
TSC2 P1675R unknown
TSC2 P1770S unknown
TSC2 P237L unknown
TSC2 P28fs loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 P674S unknown
TSC2 Q112* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 Q1178* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 Q1192* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 Q1503* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 Q200fs loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 Q325* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 Q371H unknown
TSC2 Q373P no effect - predicted
TSC2 Q417* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 Q572H unknown
TSC2 Q785* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 Q90* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 R1032Q unknown
TSC2 R1138* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 R115H unknown
TSC2 R1200P loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 R1268G unknown
TSC2 R1329P unknown
TSC2 R1361Q unknown
TSC2 R1409G no effect - predicted
TSC2 R1459* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 R1580W no effect - predicted
TSC2 R1639H unknown
TSC2 R1720Q loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 R1729H unknown
TSC2 R1743W loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 R1745C unknown
TSC2 R1745H unknown
TSC2 R1795C no effect
TSC2 R308W loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 R367Q no effect - predicted
TSC2 R458* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 R505* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 R537C unknown
TSC2 R57H unknown
TSC2 R585H unknown
TSC2 R611Q loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 R611W loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 R622W loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 R718H unknown
TSC2 R751* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 R901C loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 R901H unknown
TSC2 R905fs loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 R905Q loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 R978H unknown
TSC2 R98W loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 S1036F unknown
TSC2 S1045F loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 S1085fs loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 S1090C unknown
TSC2 S1130A unknown
TSC2 S1132A unknown
TSC2 S1220T unknown
TSC2 S1221L unknown
TSC2 S1410L no effect - predicted
TSC2 S1420A unknown
TSC2 S1431L unknown
TSC2 S1524L unknown
TSC2 S1568C unknown
TSC2 S1723* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 S1798A loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 S1798F unknown
TSC2 S311F unknown
TSC2 S554L unknown
TSC2 S641R unknown
TSC2 S932N unknown
TSC2 S939A unknown
TSC2 S981A unknown
TSC2 T1059Nfs*109 loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 T1068I loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 T1075I no effect - predicted
TSC2 T1206A unknown
TSC2 T1462A no effect - predicted
TSC2 T147K loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 T993A unknown
TSC2 V1034I unknown
TSC2 V1067E loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 V1144M unknown
TSC2 V1199G loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 V1547I loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 V1623G loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 V1646G loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 V1703M unknown
TSC2 V225M unknown
TSC2 V241I unknown
TSC2 V299fs loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 V461M unknown
TSC2 V472M unknown
TSC2 V504D loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 V550G unknown
TSC2 V679M unknown
TSC2 V692I unknown
TSC2 V769E loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC2 V909Cfs*6 loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 W1208* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 W304Ffs*27 loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC2 wild-type no effect
TSC2 Y1608D unknown