TSC2 (Tuberin) variants and mutations
TSC2 (also known as Tuberin) is a human protein-coding gene encoding a tuberin protein. Together with TSC1, it inactivates RHEB and restrains mTORC1 when growth conditions are unfavorable. Loss-of-function variants cause tuberous sclerosis complex with hamartomas and tumors affecting the brain, kidneys, skin, heart, lungs, and other organs. This analysis covers 7,629 TSC2 variants and mutations. Of these, 56% have computational variant effect predictions. Disease context includes tuberous sclerosis, tuberous sclerosis 2, and lymphangioleiomyomatosis. Example TSC2 variants include M1I, M1K, and M1T.
Variant analysis overview
- Gene: TSC2
- Protein: Tuberin
- UniProt accession: P49815
- Organism: Homo sapiens
- Variants analyzed: 7629
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 7,508 unspecified-consequence records; 3 stop-gained variants; 2 frameshift variants; 49 missense variants; 55 synonymous variants; 1 in-frame deletions; 5 splice-region variants; 5 substitution
- Prediction scores: 4,267 variants have prediction scores (56% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: tuberous sclerosis, tuberous sclerosis 2, lymphangioleiomyomatosis, isolated focal cortical dysplasia type II, hepatocellular carcinoma, Inherited cancer-predisposing syndrome, hereditary neoplastic syndrome, familial adenomatous polyposis 3, attenuated familial adenomatous polyposis, tuberous sclerosis 1, Cortical tubers, autism spectrum disorder.
Protein structure and variant hotspots
- Protein features: 1 domains; 22 post-translational modification sites.
- Structural context: 1,132 variants have structural context.
- PTM context: 82 variants overlap post-translational modification sites.
- Experimental data: 69 protein positions have experimental scores. Source: TSC2 functional assay using prime editing in HAP1s.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable TSC2 variants
Examples include M1I, M1K, M1T, M1V, A2D, A2G, A2P, A2S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs397515208, ClinGen CA394300423, ClinVar RCV000728954, ClinGen CA019804, AlphaMissense 0.72, MetaLR 0.85, Uncertain significance, Tuberous sclerosis 2; Hereditary cancer-predisposing syndrome
- M1K (p.Met1Lys), rs2084667702, ClinGen CA394300404, ClinVar RCV001891847, AlphaMissense 0.36, MetaLR 0.84, Uncertain significance, Tuberous sclerosis 2
- M1T (p.Met1Thr), rs2084667702, ClinGen CA394300406, ClinVar RCV001299467, ClinVar RCV002437016, AlphaMissense 0.36, MetaLR 0.84, Uncertain significance, Hereditary cancer-predisposing syndrome
- M1V (p.Met1Val), rs1055443730, ClinGen CA276768556, ClinVar RCV001867345, ClinVar RCV002422931, AlphaMissense 0.12, MetaLR 0.83, Uncertain significance, TSC2-related disorder
- A2D (p.Ala2Asp), Ensembl rs2084668501, Uncertain significance, Tuberous sclerosis 2
- A2G (p.Ala2Gly), Ensembl rs2084668501, Uncertain significance
- A2P (p.Ala2Pro), rs769400464, ClinGen CA394300434, ClinVar RCV002343059, ClinVar RCV006470796, AlphaMissense 0.13, MetaLR 0.80, Uncertain significance, Tuberous sclerosis 2; Hereditary cancer-predisposing syndrome
- A2S (p.Ala2Ser), rs769400464, ClinGen CA053461, ClinVar RCV001894812, ExAC rs769400464, REVEL 0.34, AlphaMissense 0.13, Uncertain significance, Hereditary cancer-predisposing syndrome
- A2T (p.Ala2Thr), rs769400464, ClinGen CA394300433, ClinVar RCV002635295, ExAC rs769400464, AlphaMissense 0.13, MetaLR 0.80, Uncertain significance, Tuberous sclerosis 2
- A2V (p.Ala2Val), rs2084668501, ClinGen CA394300446, ClinVar RCV001057284, ClinVar RCV005502998, AlphaMissense 0.55, MetaLR 0.78, Uncertain significance
- A2A (p.Ala2Ala), rs745578322, gnomAD 16-2048603-G-T, CADD 0.84
- K3* (p.Lys3Ter), Ensembl rs2150969755
- K3I (p.Lys3Ile), Ensembl rs2150969772
- K3N (p.Lys3Asn), Ensembl rs2150969793, Likely benign
- K3R (p.Lys3Arg), Ensembl rs2150969772
- P4A (p.Pro4Ala), Ensembl rs2150969834
- P4L (p.Pro4Leu), rs147206318, ClinGen CA028755, ClinVar RCV000815336, ClinVar RCV002345865, REVEL 0.43, CADD 23.70, Benign
- P4Q (p.Pro4Gln), ESP rs147206318, ExAC rs147206318, TOPMed rs147206318, gnomAD rs147206318, Benign
- P4S (p.Pro4Ser), rs2150969834, ClinGen CA394300537, ClinVar RCV003627530, ClinVar RCV004005912, AlphaMissense 0.09, MetaLR 0.75, Uncertain significance, Tuberous sclerosis 2; Tuberous sclerosis syndrome
- P4T (p.Pro4Thr), Ensembl rs2150969834
- P4P (p.Pro4Pro), rs762387565, gnomAD 16-2048627-A-G, CADD 4.31
- T5A (p.Thr5Ala), rs45517093, ClinGen CA014750, ClinVar RCV000042993, ClinVar RCV000644262, REVEL 0.16, CADD 2.68, Benign
- T5K (p.Thr5Lys), Ensembl rs2150969959
- T5R (p.Thr5Arg), Ensembl rs2150969959
- T5S (p.Thr5Ser), rs2150969451, gnomAD 16-2048613-A-T, CADD 16.90
- T5I (p.Thr5Ile), rs2084667325, gnomAD 16-2048614-C-T, CADD 17.10
- S6C (p.Ser6Cys), rs1555494544, ClinGen CA394300573, ClinVar RCV001062131, ClinVar RCV004678942, AlphaMissense 0.06, MetaLR 0.28, Uncertain significance
- S6G (p.Ser6Gly), rs1555494544, ClinGen CA394300569, ClinVar RCV000644162, ClinVar RCV003162913, REVEL 0.17, AlphaMissense 0.06, Uncertain significance
- S6I (p.Ser6Ile), ExAC rs758239066, TOPMed rs758239066, gnomAD rs758239066, Benign
- S6N (p.Ser6Asn), rs758239066, ClinGen CA033570, ClinVar RCV000213113, ClinVar RCV000537615, REVEL 0.15, CADD 21.70, Benign
- S6R (p.Ser6Arg), Ensembl rs2150970102
- S6T (p.Ser6Thr), rs758239066, ClinGen CA394300582, ClinVar RCV001969155, ExAC rs758239066, REVEL 0.16, CADD 21.20, Benign, Tuberous sclerosis 2
- S6L (p.Ser6Leu), rs756894914, gnomAD 16-2048587-AG-A, CADD 11.10
- S6F (p.Ser6Phe), rs780829685, gnomAD 16-2048596-C-T, CADD 10.00
- K7* (p.Lys7Ter), rs397514951, ClinGen CA016415, ClinVar RCV000055137, Ensembl rs397514951, Tuberous sclerosis syndrome
- K7I (p.Lys7Ile), ExAC rs137854215, TOPMed rs137854215, gnomAD rs137854215, Benign
- K7N (p.Lys7Asn), Ensembl rs2150970204
- K7R (p.Lys7Arg), rs137854215, ClinGen CA016732, ClinVar RCV000042450, ClinVar RCV000466851, REVEL 0.28, AlphaMissense 0.72, Benign
- K7T (p.Lys7Thr), rs137854215, ClinGen CA394300618, cosmic curated COSV54592, ClinVar RCV001213412, AlphaMissense 0.72, MetaLR 0.39, Benign
- D8E (p.Asp8Glu), Ensembl rs2150970294
- D8H (p.Asp8His), cosmic curated COSV10587, Ensembl rs1596233815, Uncertain significance, Hereditary cancer-predisposing syndrome
- D8N (p.Asp8Asn), rs1596233815, ClinGen CA394300630, ClinVar RCV000798636, Ensembl rs1596233815, AlphaMissense 0.77, MetaLR 0.47, Uncertain significance
- D8V (p.Asp8Val), ExAC rs761071880, gnomAD rs761071880, REVEL 0.52, CADD 29.90
- S9* (p.Ser9Ter), rs397515228, ClinGen CA017918, ClinVar RCV000055535, ClinVar RCV001248431, CADD 37.00, Pathogenic
- S9A (p.Ser9Ala), rs2150970332, ClinGen CA394300693, ClinVar RCV004520803, AlphaMissense 0.08, MetaLR 0.30, Uncertain significance, Hereditary cancer-predisposing syndrome
- S9L (p.Ser9Leu), Ensembl rs397515228, Pathogenic
- S9P (p.Ser9Pro), Ensembl rs2150970332, Uncertain significance, Hereditary cancer-predisposing syndrome; Tuberous sclerosis 2
- S9T (p.Ser9Thr), Ensembl rs2150970332
- S9C (p.Ser9Cys), rs1359835338, gnomAD 16-2048605-C-G, CADD 7.46
- S9F (p.Ser9Phe), rs1423798557, gnomAD 16-2048611-C-T, CADD 16.70
- S9S (p.Ser9Ser), rs1596233597, gnomAD 16-2048612-C-T, CADD 17.20
- G10A (p.Gly10Ala), TOPMed rs2084671697, Uncertain significance
- G10C (p.Gly10Cys), Ensembl rs2150970435, Uncertain significance
- G10D (p.Gly10Asp), TOPMed rs2084671697, Uncertain significance
- G10R (p.Gly10Arg), rs2150970435, ClinGen CA394300724, ClinVar RCV003628501, ClinVar RCV004676253, AlphaMissense 0.22, MetaLR 0.37, Uncertain significance, Tuberous sclerosis 2; Hereditary cancer-predisposing syndrome
- G10S (p.Gly10Ser), Ensembl rs2150970435, Uncertain significance
- G10V (p.Gly10Val), rs2084671697, ClinGen CA394300741, ClinVar RCV001207076, TOPMed rs2084671697, AlphaMissense 0.20, MetaLR 0.38, Uncertain significance
- G10E (p.Gly10Glu), rs148518100, gnomAD 16-2048590-G-A, CADD 8.44
- G10G (p.Gly10Gly), rs142792781, gnomAD 16-2048591-G-T, CADD 8.01
- L11F (p.Leu11Phe), TOPMed rs1190907341, Likely benign
- L11M (p.Leu11Met), TOPMed rs978517404, Uncertain significance, Hereditary cancer-predisposing syndrome
- L11S (p.Leu11Ser), NCI-TCGA TCGA novel, Uncertain significance, Hereditary cancer-predisposing syndrome
- L11V (p.Leu11Val), rs978517404, ClinGen CA394300746, ClinVar RCV003297080, AlphaMissense 0.17, MetaLR 0.30, Uncertain significance, Hereditary cancer-predisposing syndrome
- L11L (p.Leu11Leu), rs978517404, gnomAD 16-2048646-T-C, AlphaMissense 0.17, MetaLR 0.30
- K12* (p.Lys12Ter), rs45512692, ClinGen CA019229, ClinVar RCV000013202, ClinVar RCV000042837, AlphaMissense 0.63, MetaLR 0.79, Pathogenic
- K12E (p.Lys12Glu), Ensembl rs45512692, Pathogenic
- K12M (p.Lys12Met), Ensembl rs2150970638
- K12N (p.Lys12Asn), rs1596233951, ClinGen CA394300841, cosmic curated COSV10957, NCI-TCGA Cosmic COSV9952, AlphaMissense 0.89, MetaLR 0.78, Likely benign
- K12K (p.Lys12Lys), rs1596233951, gnomAD 16-2048651-G-A, AlphaMissense 0.89, MetaLR 0.78
- E13D (p.Glu13Asp), rs766814650, ExAC rs766814650, gnomAD rs766814650, ClinGen CA049909, REVEL 0.48, CADD 23.80, Benign
- E13G (p.Glu13Gly), gnomAD rs1290177807, REVEL 0.79, CADD 32.00
- E13K (p.Glu13Lys), rs1555494586, ClinGen CA394300845, ClinVar RCV000562925, ClinVar RCV001853810, REVEL 0.71, CADD 32.00, Uncertain significance
- E13Q (p.Glu13Gln), Ensembl rs1555494586, Uncertain significance
- E13V (p.Glu13Val), gnomAD rs1290177807
- E13* (p.Glu13Ter), rs948409198, gnomAD 16-2048273-G-T, CADD 12.90
- E13del (p.Glu13del), rs778509364, gnomAD 16-2048649-AAGG-A, CADD 22.20
- K14R (p.Lys14Arg), rs1263108967, ClinGen CA394300893, ClinVar RCV001901149, ClinVar RCV002256862, REVEL 0.52, CADD 25.40, Likely benign
- F15I (p.Phe15Ile), Ensembl rs2150970842
- F15V (p.Phe15Val), Ensembl rs2150970842, REVEL 0.66, CADD 24.60
- F15C (p.Phe15Cys), rs2150970912, ClinGen CA394300930, ClinVar RCV003297081, Ensembl rs2150970912, AlphaMissense 0.56, MetaLR 0.78, Uncertain significance, Hereditary cancer-predisposing syndrome
- F15L (p.Phe15Leu), rs2548349074, ClinGen CA394300947, ClinVar RCV002342383, Uncertain significance, Hereditary cancer-predisposing syndrome
- F15S (p.Phe15Ser), Ensembl rs2150970912, Uncertain significance
- F15Y (p.Phe15Tyr), Ensembl rs2150970912, Uncertain significance
- K16* (p.Lys16Ter), Ensembl rs2150970962, Pathogenic
- K16E (p.Lys16Glu), Ensembl rs2150970962
- K16M (p.Lys16Met), Ensembl rs2150971017
- K16N (p.Lys16Asn), rs2084674938, ClinGen CA394301004, cosmic curated COSV10726, ClinVar RCV001324147, AlphaMissense 0.80, MetaLR 0.35, Uncertain significance, Hereditary cancer-predisposing syndrome; Tuberous sclerosis 2
- K16R (p.Lys16Arg), Ensembl rs2150971017
- I17F (p.Ile17Phe), rs1274194851, ClinGen CA394301032, ClinVar RCV003513143, AlphaMissense 0.08, MetaLR 0.11, Uncertain significance, Tuberous sclerosis 2
- I17M (p.Ile17Met), rs2150971085, ClinGen CA394301052, ClinVar RCV004520870, ClinVar RCV006564925, REVEL 0.02, CADD 14.50, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Tuberous sclerosis 2
- I17S (p.Ile17Ser), rs2548349184, ClinGen CA394301043, ClinVar RCV003297082, ClinVar RCV003512209, REVEL 0.05, CADD 4.59, Uncertain significance, Tuberous sclerosis syndrome; Tuberous sclerosis 2; Hereditary cancer-predisposin
- I17V (p.Ile17Val), rs1274194851, ClinGen CA394301016, ClinVar RCV001023388, ClinVar RCV001337454, AlphaMissense 0.08, MetaLR 0.11, Uncertain significance
- L18M (p.Leu18Met), cosmic curated COSV10940, Ensembl rs1596234078, Likely benign
- L18V (p.Leu18Val), rs1596234078, ClinGen CA394301054, ClinVar RCV003628542, Ensembl rs1596234078, REVEL 0.09, CADD 19.70, Uncertain significance, Tuberous sclerosis 2
- L18L (p.Leu18Leu), rs2150971145, gnomAD 16-2048669-G-T, CADD 2.03
- L19F (p.Leu19Phe), gnomAD rs1223300370, REVEL 0.07, CADD 15.50
- L19M (p.Leu19Met), Ensembl rs2150971171, Uncertain significance, Hereditary cancer-predisposing syndrome
- L19L (p.Leu19Leu), rs2150971171, gnomAD 16-2048670-T-C, CADD 9.88
- G20* (p.Gly20Ter), Ensembl rs1596234105, Uncertain significance
- G20A (p.Gly20Ala), Ensembl rs2150971313, Uncertain significance
- G20E (p.Gly20Glu), cosmic curated COSV99526, Ensembl rs2150971313, Uncertain significance, Hereditary cancer-predisposing syndrome
- G20R (p.Gly20Arg), rs1596234105, ClinGen CA394301128, cosmic curated COSV10726, ClinVar RCV001024667, AlphaMissense 0.56, MetaLR 0.31, Uncertain significance
- G20V (p.Gly20Val), rs2150971313, ClinGen CA394301139, ClinVar RCV001947221, ClinVar RCV006251060, REVEL 0.24, CADD 24.00, Uncertain significance
- G20G (p.Gly20Gly), rs1060504108, gnomAD 16-2048675-A-C, CADD 10.50
- L21M (p.Leu21Met), rs2084676177, ClinGen CA394301140, ClinVar RCV001315122, Ensembl rs2084676177, AlphaMissense 0.11, MetaLR 0.36, Uncertain significance
- L21P (p.Leu21Pro), NCI-TCGA TCGA novel, Uncertain significance, not provided; Tuberous sclerosis 2; Hereditary cancer-predisposing syndrome
- L21V (p.Leu21Val), rs2084676177, ClinGen CA394301142, ClinVar RCV002302135, Ensembl rs2084676177, REVEL 0.24, AlphaMissense 0.11, Uncertain significance, Tuberous sclerosis 2
- G22* (p.Gly22Ter), cosmic curated COSV54594, gnomAD rs1479698846, Benign
- G22A (p.Gly22Ala), rs2084676497, ClinGen CA394301171, ClinVar RCV001320097, ClinVar RCV006287400, CADD 7.45, Uncertain significance
- G22E (p.Gly22Glu), Ensembl rs2084676497, Uncertain significance
- G22R (p.Gly22Arg), rs1479698846, gnomAD rs1479698846, ClinGen CA394301149, cosmic curated COSV54592, REVEL 0.16, CADD 24.40, Benign, Tuberous sclerosis 2
- T23A (p.Thr23Ala), Ensembl rs2150971563
- T23I (p.Thr23Ile), Ensembl rs2150971606, Uncertain significance, Tuberous sclerosis 2
- T23R (p.Thr23Arg), Ensembl rs2150971606
- T23S (p.Thr23Ser), Ensembl rs2150971563
- P24A (p.Pro24Ala), Ensembl rs1567380585, Uncertain significance
- P24L (p.Pro24Leu), rs868467487, ClinGen CA276768594, ClinVar RCV001205363, ClinVar RCV003163556, REVEL 0.08, AlphaMissense 0.09, Uncertain significance
- P24Q (p.Pro24Gln), rs868467487, ClinGen CA394301209, ClinVar RCV001348642, 1000Genomes rs868467487, AlphaMissense 0.09, MetaLR 0.34, Uncertain significance
- P24R (p.Pro24Arg), rs868467487, ClinGen CA394301212, ClinVar RCV003297169, 1000Genomes rs868467487, AlphaMissense 0.09, MetaLR 0.34, Uncertain significance, Hereditary cancer-predisposing syndrome
- P24T (p.Pro24Thr), rs1567380585, ClinGen CA394301207, ClinVar RCV000690087, ClinVar RCV004768565, AlphaMissense 0.06, MetaLR 0.08, Uncertain significance
- P24P (p.Pro24Pro), rs754121475, gnomAD 16-2048687-G-A, CADD 8.00
- R25K (p.Arg25Lys), rs759867905, ClinGen CA056318, ClinVar RCV000644165, ClinVar RCV002388092, REVEL 0.24, AlphaMissense 0.12, Benign
- R25M (p.Arg25Met), rs759867905, ClinGen CA394301232, ClinVar RCV003512954, NCI-TCGA TCGA novel, AlphaMissense 0.12, MetaLR 0.39, Uncertain significance, Tuberous sclerosis 2
- R25S (p.Arg25Ser), Ensembl rs2150971828, Likely benign
- R25T (p.Arg25Thr), ExAC rs759867905, gnomAD rs759867905, Benign
- R25W (p.Arg25Trp), Ensembl rs2150971761
- P26A (p.Pro26Ala), Ensembl rs2150971861, CADD 5.55
- P26L (p.Pro26Leu), rs1555494636, ClinGen CA394301263, ClinVar RCV000520283, ClinVar RCV000556475, REVEL 0.19, CADD 21.50, Uncertain significance
- P26Q (p.Pro26Gln), Ensembl rs1555494636, CADD 3.92, Uncertain significance
- P26S (p.Pro26Ser), rs2150971861, ClinGen CA394301253, ClinVar RCV003513103, CADD 6.07, Uncertain significance, Tuberous sclerosis 2
- P26T (p.Pro26Thr), Ensembl rs2150971861, CADD 5.42
- N27D (p.Asn27Asp), rs2084677815, ClinGen CA394301280, ClinVar RCV001118862, ClinVar RCV001882385, AlphaMissense 0.17, MetaLR 0.21, Uncertain significance
- N27K (p.Asn27Lys), rs2548350127, ClinGen CA394301307, ClinVar RCV003297083, ClinVar RCV004009710, Conflicting interpretations, Tuberous sclerosis syndrome; Hereditary cancer-predisposing syndrome
- P28A (p.Pro28Ala), rs200480606, ClinGen CA394301314, ClinVar RCV003512992, 1000Genomes rs200480606, AlphaMissense 0.06, MetaLR 0.12, Uncertain significance, Tuberous sclerosis 2
- P28H (p.Pro28His), rs1057522105, ClinGen CA16607134, ClinVar RCV000428159, ClinVar RCV000468568, REVEL 0.09, AlphaMissense 0.16, Benign
- P28L (p.Pro28Leu), TOPMed rs1057522105, gnomAD rs1057522105, Uncertain significance, Tuberous sclerosis 2; Hereditary cancer-predisposing syndrome
- P28R (p.Pro28Arg), rs1057522105, ClinVar RCV004573790, TOPMed rs1057522105, gnomAD rs1057522105, AlphaMissense 0.16, MetaLR 0.29, Uncertain significance, Isolated focal cortical dysplasia type II
- P28S (p.Pro28Ser), rs200480606, ClinGen CA056465, ClinVar RCV003628591, ClinVar RCV005301342, REVEL 0.01, AlphaMissense 0.06, Benign/Likely benign, Tuberous sclerosis 2; Hereditary cancer-predisposing syndrome
- P28T (p.Pro28Thr), rs200480606, ClinGen CA394301311, ClinVar RCV001224456, 1000Genomes rs200480606, AlphaMissense 0.06, MetaLR 0.12, Benign
- P28P (p.Pro28Pro), rs2150972083, gnomAD 16-2048699-C-T, CADD 13.20
- R29G (p.Arg29Gly), rs752830086, ClinGen CA394301346, ClinVar RCV002838297, ExAC rs752830086, AlphaMissense 0.19, MetaLR 0.22, Uncertain significance, Tuberous sclerosis 2
- R29K (p.Arg29Lys), rs1567380695, ClinGen CA394301347, ClinVar RCV000693713, ClinVar RCV006552711, AlphaMissense 0.32, MetaLR 0.22, Uncertain significance, Hereditary cancer-predisposing syndrome; Tuberous sclerosis 2
- R29M (p.Arg29Met), Ensembl rs1567380695, Uncertain significance
- R29S (p.Arg29Ser), rs1010489256, ClinGen CA394301358, ClinVar RCV001313020, ClinVar RCV006287386, REVEL 0.22, CADD 22.20, Likely benign
- R29T (p.Arg29Thr), rs1567380695, ClinGen CA394301351, ClinVar RCV001215302, Ensembl rs1567380695, AlphaMissense 0.32, MetaLR 0.22, Uncertain significance
- R29W (p.Arg29Trp), ExAC rs752830086, gnomAD rs752830086, Uncertain significance
- R29R (p.Arg29Arg), rs752830086, gnomAD 16-2048700-A-C, AlphaMissense 0.19, MetaLR 0.22
- S30A (p.Ser30Ala), Ensembl rs2150972276
- S30C (p.Ser30Cys), rs1425163522, ClinGen CA394301392, ClinVar RCV000699032, ClinVar RCV002256480, REVEL 0.04, CADD 22.50, Benign
- S30F (p.Ser30Phe), NCI-TCGA Cosmic COSV5459, gnomAD rs1425163522, REVEL 0.18, CADD 22.80, Benign
- S30T (p.Ser30Thr), Ensembl rs2150972276
- S30Y (p.Ser30Tyr), NCI-TCGA Cosmic COSV5459, cosmic curated COSV54594, Variant assessed as somatic; moderate impact.
- S30P (p.Ser30Pro), gnomAD 16-2048703-T-C, REVEL 0.25, CADD 22.10
- A31G (p.Ala31Gly), Ensembl rs1567380741, Uncertain significance
- A31P (p.Ala31Pro), Ensembl rs2150972376
- A31T (p.Ala31Thr), Ensembl rs2150972376, Uncertain significance, Hereditary cancer-predisposing syndrome
- A31V (p.Ala31Val), rs1567380741, ClinGen CA394301412, ClinVar RCV000700683, ClinVar RCV004948613, AlphaMissense 0.09, MetaLR 0.25, Uncertain significance
- A31A (p.Ala31Ala), rs1596234316, gnomAD 16-2048708-A-G, CADD 13.60
- E32D (p.Glu32Asp), Ensembl rs1567380772, cosmic curated COSV54594, REVEL 0.22, CADD 23.70, Uncertain significance, Tuberous sclerosis syndrome; Tuberous sclerosis 2
- E32G (p.Glu32Gly), rs1482573368, ClinGen CA394301421, ClinVar RCV001070398, ClinVar RCV002379624, REVEL 0.39, AlphaMissense 1.00, Benign
- E32K (p.Glu32Lys), rs2084679567, ClinGen CA394301415, cosmic curated COSV10497, ClinVar RCV001247049, AlphaMissense 0.21, MetaLR 0.37, Uncertain significance
- E32Q (p.Glu32Gln), rs2084679567, ClinGen CA394301416, NCI-TCGA Cosmic COSV9952, cosmic curated COSV99526, AlphaMissense 0.21, MetaLR 0.37, Uncertain significance, Hereditary cancer-predisposing syndrome; Tuberous sclerosis syndrome
- E32E (p.Glu32Glu), rs1567380772, gnomAD 16-2048711-G-A, CADD 16.30
- G33A (p.Gly33Ala), gnomAD rs1352220583, Benign
- G33C (p.Gly33Cys), ExAC rs370230541, TOPMed rs370230541, gnomAD rs370230541, Uncertain significance
- G33D (p.Gly33Asp), rs1352220583, ClinGen CA394301452, ClinVar RCV000644123, ClinVar RCV002386073, REVEL 0.27, CADD 24.50, Benign
- G33R (p.Gly33Arg), ExAC rs370230541, TOPMed rs370230541, gnomAD rs370230541, Uncertain significance, Tuberous sclerosis 2
- G33S (p.Gly33Ser), rs370230541, ClinGen CA056868, cosmic curated COSV10635, ClinVar RCV000563255, REVEL 0.15, CADD 24.00, Uncertain significance
- K34* (p.Lys34Ter), Ensembl rs2084680573, Uncertain significance
- K34E (p.Lys34Glu), rs2084680573, ClinGen CA394301483, ClinVar RCV001322979, Ensembl rs2084680573, AlphaMissense 0.33, MetaLR 0.21, Uncertain significance, Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclero
- K34N (p.Lys34Asn), rs2150972734, ClinGen CA394301506, ClinVar RCV003152258, Ensembl rs2150972734, REVEL 0.07, CADD 8.08, Uncertain significance, not provided
- K34R (p.Lys34Arg), rs777988634, ClinGen CA027990, ClinVar RCV000570293, ClinVar RCV002530345, REVEL 0.06, CADD 15.10, Benign
- K34T (p.Lys34Thr), rs777988634, ClinGen CA027975, ClinVar RCV000189880, ClinVar RCV000475609, REVEL 0.15, CADD 15.20, Uncertain significance, Hereditary cancer-predisposing syndrome
- Q35* (p.Gln35Ter), rs137854105, ClinGen CA013636, NCI-TCGA Cosmic COSV5459, cosmic curated COSV54594, AlphaMissense 0.10, MetaLR 0.33, Uncertain significance
- Q35E (p.Gln35Glu), Ensembl rs137854105, Uncertain significance, Hereditary cancer-predisposing syndrome
- Q35L (p.Gln35Leu), Ensembl rs2150972786
- Q35R (p.Gln35Arg), gnomAD 16-2048719-A-G, REVEL 0.17, CADD 23.80
- T36A (p.Thr36Ala), rs757113497, ClinGen CA028094, ClinVar RCV000189881, ClinVar RCV000467572, REVEL 0.23, CADD 24.20, Likely benign
- T36M (p.Thr36Met), rs376280172, ClinGen CA276768616, ClinVar RCV001371341, ClinVar RCV004006829, AlphaMissense 0.10, MetaLR 0.42, Likely benign
- T36R (p.Thr36Arg), Ensembl rs376280172, Likely benign
Public TSC2 analysis runs
- TSC2 analysis run — TSC2 (7,629 variants) — completed 2026-08-18