TGFBR2 (TGF-beta receptor type-2) variants and mutations
TGFBR2 (also known as TGF-beta receptor type-2) is a human protein-coding gene encoding a TGF-beta receptor type-2 protein. It binds TGF-beta ligands and activates TGFBR1 to initiate canonical and noncanonical signaling. Germline pathogenic variants cause Loeys-Dietz syndrome type 2, while somatic loss can remove growth-suppressive TGF-beta responses in cancer. This analysis covers 2,235 TGFBR2 variants and mutations. Of these, 43% have computational variant effect predictions. Disease context includes Loeys-Dietz syndrome, Loeys-Dietz syndrome 2, and Marfan syndrome. Example TGFBR2 variants include M1?, M1V, and G2C.
Variant analysis overview
- Gene: TGFBR2
- Protein: TGF-beta receptor type-2
- UniProt accession: P37173
- Organism: Homo sapiens
- Variants analyzed: 2235
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 2,034 unspecified-consequence records; 96 missense variants; 79 synonymous variants; 18 frameshift variants; 1 stop-gained variants; 2 splice-region variants; 4 in-frame deletions; 1 in-frame insertions
- Prediction scores: 957 variants have prediction scores (43% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Loeys-Dietz syndrome, Loeys-Dietz syndrome 2, Marfan syndrome, familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome type 2, esophageal cancer, neurodegenerative disease, colorectal cancer, hereditary nonpolyposis, type 6, cancer, breast carcinoma, Abnormality of the cardiovascular system, Parkinson disease.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 1 domains; 2 binding sites; 6 post-translational modification sites.
- Structural context: 1,341 variants have structural context.
- PTM context: 24 variants overlap post-translational modification sites.
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 TGFBR2 variants
Examples include M1?, M1V, G2C, G2S, G2D, G2V, G2G, R3P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, cosmic curated COSV10962
- M1V (p.Met1Val), rs933114782, ClinGen CA72289962, ClinVar RCV001179694, ClinVar RCV002483977, MetaLR 0.61, MetaSVM 0.20, Uncertain significance/Uncertain risk allele, Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 2
- G2C (p.Gly2Cys), rs565502802, ClinGen CA049102, ClinVar RCV000234528, ClinVar RCV001526891, REVEL 0.46, CADD 31.00, Conflicting interpretations, not provided; Familial thoracic aortic aneurysm and aortic dissection; not speci
- G2S (p.Gly2Ser), rs565502802, ClinGen CA351830462, ClinVar RCV002856375, ClinVar RCV004007633, REVEL 0.31, CADD 25.20, Uncertain significance, Loeys-Dietz syndrome 2; Familial thoracic aortic aneurysm and aortic dissection
- G2D (p.Gly2Asp), gnomAD 3-30606888-G-A, REVEL 0.51, CADD 26.70
- G2V (p.Gly2Val), gnomAD 3-30606888-G-T, REVEL 0.48, CADD 26.50
- G2G (p.Gly2Gly), rs758864131, gnomAD 3-30606889-T-C, CADD 15.70
- R3P (p.Arg3Pro), rs780267559, ClinGen CA050096, ClinVar RCV004013700, ClinVar RCV006483798, REVEL 0.46, CADD 25.90, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 2
- R3Q (p.Arg3Gln), rs780267559, ClinGen CA050077, ClinVar RCV001182181, ClinVar RCV004008281, REVEL 0.45, CADD 25.70, Uncertain significance/Uncertain risk allele, Loeys-Dietz syndrome 2; Diabetic retinopathy; Familial thoracic aortic aneurysm
- R3W (p.Arg3Trp), rs2470443423, ClinGen CA351830468, ClinVar RCV003140548, ClinVar RCV005622219, REVEL 0.44, CADD 25.60, Uncertain significance, not provided; Familial thoracic aortic aneurysm and aortic dissection; Loeys-Die
- R3R (p.Arg3Arg), gnomAD 3-30606890-C-A, CADD 16.10
- R3L (p.Arg3Leu), gnomAD 3-30606891-G-T, REVEL 0.44, CADD 25.50
- G4W (p.Gly4Trp), gnomAD 3-30606893-G-T, REVEL 0.34, CADD 25.30
- G4R (p.Gly4Arg), gnomAD 3-30606893-G-A, REVEL 0.25, CADD 23.20
- G4A (p.Gly4Ala), gnomAD 3-30606894-G-C, REVEL 0.20, CADD 22.40
- G4E (p.Gly4Glu), gnomAD 3-30606894-G-A, REVEL 0.22, CADD 23.90
- G4V (p.Gly4Val), gnomAD 3-30606894-G-T, REVEL 0.28, CADD 23.80
- G4G (p.Gly4Gly), rs1697932548, gnomAD 3-30606895-G-A, CADD 15.70
- L5C (p.Leu5Cys), rs1281085856, gnomAD 3-30606890-CG-C, CADD 32.00
- L5A (p.Leu5Ala), gnomAD 3-30606890-C-CG, CADD 32.00
- L5L (p.Leu5Leu), gnomAD 3-30606896-C-T, CADD 15.50
- L5V (p.Leu5Val), gnomAD 3-30606896-C-G, REVEL 0.37, CADD 26.70
- L5M (p.Leu5Met), gnomAD 3-30606896-C-A, REVEL 0.35, CADD 26.90
- L5P (p.Leu5Pro), gnomAD 3-30606897-T-C, REVEL 0.60, CADD 31.00
- L6F (p.Leu6Phe), rs2470443466, ClinGen CA351830483, ClinVar RCV002800101, REVEL 0.35, CADD 23.90, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- L6P (p.Leu6Pro), rs2470443468, ClinGen CA351830485, ClinVar RCV004314959, NCI-TCGA TCGA novel, REVEL 0.54, CADD 24.80, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- L6I (p.Leu6Ile), gnomAD 3-30606899-C-A, REVEL 0.19, CADD 23.40
- L6L (p.Leu6Leu), gnomAD 3-30606901-C-A, CADD 14.00
- R7K (p.Arg7Lys), rs1697932736, ClinGen CA351830489, ClinVar RCV003643231, TOPMed rs1697932736, REVEL 0.15, CADD 22.60, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- R7M (p.Arg7Met), TOPMed rs1697932736, gnomAD rs1697932736, REVEL 0.44, CADD 24.00, Uncertain significance
- R7G (p.Arg7Gly), gnomAD 3-30606902-A-G, REVEL 0.25, CADD 8.29
- R7S (p.Arg7Ser), gnomAD 3-30606904-G-T, REVEL 0.27, CADD 23.50
- R7R (p.Arg7Arg), gnomAD 3-30606904-G-A, CADD 16.10
- G8C (p.Gly8Cys), Ensembl rs1697932804, REVEL 0.45, CADD 31.00
- G8D (p.Gly8Asp), ExAC rs777080264, gnomAD rs777080264, REVEL 0.51, CADD 29.40
- G8S (p.Gly8Ser), NCI-TCGA TCGA novel, REVEL 0.30, CADD 25.20, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 2
- G8A (p.Gly8Ala), gnomAD 3-30606902-AG-A, CADD 28.30
- G8V (p.Gly8Val), gnomAD 3-30606906-G-T, REVEL 0.54, CADD 29.10
- G8G (p.Gly8Gly), rs2125438676, gnomAD 3-30606907-C-T, CADD 16.20
- L9P (p.Leu9Pro), TOPMed rs920370571, REVEL 0.44, CADD 29.10, Uncertain significance
- L9R (p.Leu9Arg), TOPMed rs920370571, REVEL 0.49, CADD 25.30, Uncertain significance, not specified
- L9M (p.Leu9Met), gnomAD 3-30606908-C-A, REVEL 0.22, CADD 25.20
- L9L (p.Leu9Leu), rs748246142, gnomAD 3-30606908-C-T, CADD 15.20
- L9Q (p.Leu9Gln), gnomAD 3-30606909-T-A, REVEL 0.40, CADD 25.30
- W10* (p.Trp10Ter), cosmic curated COSV55454, CADD 38.00
- W10G (p.Trp10Gly), Ensembl rs2125438688, REVEL 0.41, CADD 29.70
- W10A (p.Trp10Ala), gnomAD 3-30606908-CTG-C, CADD 32.00
- W10R (p.Trp10Arg), gnomAD 3-30606911-T-C, REVEL 0.47, CADD 28.60
- W10S (p.Trp10Ser), gnomAD 3-30606912-G-C, REVEL 0.48, CADD 32.00
- W10C (p.Trp10Cys), gnomAD 3-30606913-G-T, REVEL 0.54, CADD 32.00
- P11L (p.Pro11Leu), gnomAD rs1206093523, REVEL 0.26, CADD 22.80, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- P11S (p.Pro11Ser), rs1201208132, ClinGen CA351830514, cosmic curated COSV10460, ClinVar RCV002666838, REVEL 0.24, CADD 22.90, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; not provided
- P11T (p.Pro11Thr), TOPMed rs1201208132, gnomAD rs1201208132, REVEL 0.27, CADD 22.70, Uncertain significance
- P11A (p.Pro11Ala), gnomAD 3-30606914-C-G, REVEL 0.21, CADD 22.50
- P11Q (p.Pro11Gln), gnomAD 3-30606915-C-A, REVEL 0.31, CADD 24.20
- P11P (p.Pro11Pro), rs1575125895, gnomAD 3-30606916-G-A, CADD 15.70
- L12L (p.Leu12Leu), gnomAD 3-30606917-C-T, CADD 14.90
- L12M (p.Leu12Met), gnomAD 3-30606917-C-A, REVEL 0.30, CADD 23.40
- L12P (p.Leu12Pro), gnomAD 3-30606918-T-C, REVEL 0.60, CADD 29.20
- H13N (p.His13Asn), rs2125438712, ClinGen CA351830525, ClinVar RCV003529029, REVEL 0.30, CADD 23.60, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- H13Q (p.His13Gln), gnomAD rs1437593960, REVEL 0.20, CADD 22.90, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 2
- H13R (p.His13Arg), rs769700663, ExAC rs769700663, gnomAD rs769700663, REVEL 0.30, CADD 23.70, Variant assessed as somatic; moderate impact.
- H13Y (p.His13Tyr), Ensembl rs2125438712
- H13H (p.His13His), gnomAD 3-30606922-C-T, CADD 14.10
- I14M (p.Ile14Met), rs1697933283, ClinGen CA351830536, ClinVar RCV001767811, ClinVar RCV003528327, AlphaMissense 0.11, MetaLR 0.41, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; not provided
- I14N (p.Ile14Asn), NCI-TCGA Cosmic COSV5545, REVEL 0.29, CADD 24.90, Variant assessed as somatic; moderate impact.
- I14S (p.Ile14Ser), cosmic curated COSV10515, Ensembl rs2125438725
- I14T (p.Ile14Thr), cosmic curated COSV55456
- I14L (p.Ile14Leu), gnomAD 3-30606923-A-C, REVEL 0.24, CADD 16.10
- I14V (p.Ile14Val), gnomAD 3-30606923-A-G, REVEL 0.26, CADD 14.00
- I14I (p.Ile14Ile), gnomAD 3-30606925-C-T, CADD 15.40
- V15F (p.Val15Phe), rs1182907194, ClinGen CA351830539, ClinVar RCV000774425, ClinVar RCV004001398, REVEL 0.28, CADD 24.00, Uncertain significance/Uncertain risk allele, not provided; Diabetic retinopathy; Familial thoracic aortic aneurysm and aortic
- V15I (p.Val15Ile), rs1182907194, ClinGen CA351830537, ClinVar RCV001183678, TOPMed rs1182907194, REVEL 0.08, CADD 23.30, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- V15V (p.Val15Val), gnomAD 3-30606928-C-T, CADD 14.80
- L16V (p.Leu16Val), TOPMed rs930359910, gnomAD rs930359910, REVEL 0.20, CADD 23.10
- L16L (p.Leu16Leu), rs930359910, gnomAD 3-30606929-C-T, CADD 14.90
- L16M (p.Leu16Met), gnomAD 3-30606929-C-A, REVEL 0.27, CADD 24.80
- L16Q (p.Leu16Gln), gnomAD 3-30606930-T-A, REVEL 0.52, CADD 24.20
- L16P (p.Leu16Pro), gnomAD 3-30606930-T-C, REVEL 0.56, CADD 24.70
- W17C (p.Trp17Cys), cosmic curated COSV99848, REVEL 0.62, CADD 31.00
- W17G (p.Trp17Gly), Ensembl rs2125438740
- W17R (p.Trp17Arg), gnomAD 3-30606932-T-A, REVEL 0.67, CADD 28.50
- W17L (p.Trp17Leu), gnomAD 3-30606933-G-T, REVEL 0.54, CADD 29.10
- W17* (p.Trp17Ter), gnomAD 3-30606934-G-A, CADD 37.00
- T18M (p.Thr18Met), rs1234963515, ClinGen CA351830560, ClinVar RCV003644507, TOPMed rs1234963515, REVEL 0.33, CADD 25.20, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- T18S (p.Thr18Ser), Ensembl rs2125438744
- T18A (p.Thr18Ala), gnomAD 3-30606935-A-G, REVEL 0.17, CADD 23.00
- T18T (p.Thr18Thr), rs139456857, gnomAD 3-30606937-G-A, CADD 13.30
- R19H (p.Arg19His), rs763085648, ClinGen CA351830566, cosmic curated COSV55459, ClinVar RCV001181441, REVEL 0.33, CADD 24.30, Uncertain significance/Uncertain risk allele, Loeys-Dietz syndrome 2; Diabetic retinopathy; Familial thoracic aortic aneurysm
- R19L (p.Arg19Leu), rs763085648, ClinGen CA049291, ClinVar RCV001757847, ClinVar RCV004008984, REVEL 0.42, CADD 22.50, Uncertain significance, Loeys-Dietz syndrome 2; not provided
- R19C (p.Arg19Cys), gnomAD 3-30606938-C-T, REVEL 0.40, CADD 24.90
- R19R (p.Arg19Arg), gnomAD 3-30606940-T-C, CADD 15.80
- I20F (p.Ile20Phe), rs1697933766, ClinGen CA351830569, ClinVar RCV004016585, REVEL 0.15, CADD 23.60, Uncertain significance, Loeys-Dietz syndrome 2
- I20N (p.Ile20Asn), Ensembl rs1037753551, REVEL 0.27, CADD 24.40
- I20V (p.Ile20Val), rs1697933766, ClinGen CA351830570, ClinVar RCV001179663, ClinVar RCV004033040, REVEL 0.08, CADD 19.90, Uncertain significance/Uncertain risk allele, Diabetic retinopathy; Familial thoracic aortic aneurysm and aortic dissection
- I20I (p.Ile20Ile), gnomAD 3-30606943-C-A, CADD 14.20
- A21D (p.Ala21Asp), Ensembl rs2125438781
- A21S (p.Ala21Ser), rs1697933901, ClinGen CA351830575, ClinVar RCV003824820, ClinVar RCV004006092, REVEL 0.20, CADD 23.80, Uncertain significance, Loeys-Dietz syndrome 2; Familial thoracic aortic aneurysm and aortic dissection
- A21T (p.Ala21Thr), cosmic curated COSV55446, TOPMed rs1697933901, REVEL 0.40, CADD 24.20, Likely benign, Familial thoracic aortic aneurysm and aortic dissection; Diabetic retinopathy
- A21P (p.Ala21Pro), gnomAD 3-30606944-G-C, REVEL 0.49, CADD 26.90
- A21V (p.Ala21Val), gnomAD 3-30606945-C-T, REVEL 0.30, CADD 24.10
- A21A (p.Ala21Ala), gnomAD 3-30606946-C-T, CADD 16.70
- S22C (p.Ser22Cys), rs767407566, ClinGen CA049553, ClinVar RCV001186676, ClinVar RCV001561186, REVEL 0.39, CADD 23.60, Uncertain significance/Uncertain risk allele, not provided; Familial thoracic aortic aneurysm and aortic dissection; Diabetic
- S22N (p.Ser22Asn), cosmic curated COSV10962, Ensembl rs2125438785, REVEL 0.13, CADD 23.80
- S22I (p.Ser22Ile), gnomAD 3-30606948-G-T, REVEL 0.26, CADD 24.20
- S22S (p.Ser22Ser), gnomAD 3-30606949-C-T, CADD 15.90
- S22R (p.Ser22Arg), gnomAD 3-30606949-C-A, REVEL 0.39, CADD 24.10
- T23M (p.Thr23Met), cosmic curated COSV55461, Ensembl rs2125438793, REVEL 0.27, AlphaMissense 0.12
- T23R (p.Thr23Arg), rs2125438793, ClinGen CA351830592, ClinVar RCV003882249, AlphaMissense 0.12, MetaLR 0.69, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- T23T (p.Thr23Thr), gnomAD 3-30606952-G-A, CADD 13.50
- I24F (p.Ile24Phe), rs1697934054, ClinGen CA351830595, ClinVar RCV001774684, ClinVar RCV003772056, AlphaMissense 0.07, MetaLR 0.51, Uncertain significance, not provided; Familial thoracic aortic aneurysm and aortic dissection
- I24M (p.Ile24Met), Ensembl rs1697934163
- I24T (p.Ile24Thr), ExAC rs775405890, gnomAD rs775405890, REVEL 0.37, CADD 24.10, Uncertain significance, Loeys-Dietz syndrome 2; Familial thoracic aortic aneurysm and aortic dissection
- I24I (p.Ile24Ile), gnomAD 3-30606955-C-A, CADD 15.30
- P25S (p.Pro25Ser), gnomAD rs1410470306, REVEL 0.27, CADD 23.50, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- P25T (p.Pro25Thr), gnomAD 3-30606956-C-A, REVEL 0.35, CADD 23.30
- P25Q (p.Pro25Gln), gnomAD 3-30606957-C-A, REVEL 0.43, CADD 22.80
- P25L (p.Pro25Leu), gnomAD 3-30606957-C-T, REVEL 0.41, CADD 23.90
- P25P (p.Pro25Pro), rs572435149, gnomAD 3-30606958-A-G, CADD 11.30
- P26L (p.Pro26Leu), rs2125438811, ClinGen CA351830609, ClinVar RCV003862872, ClinVar RCV004006140, REVEL 0.30, CADD 23.20, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 2
- P26S (p.Pro26Ser), rs764160271, ClinGen CA049857, cosmic curated COSV10809, ClinVar RCV001064639, REVEL 0.21, CADD 24.20, Uncertain significance/Uncertain risk allele, not provided; Loeys-Dietz syndrome 2; Malignant tumor of esophagus
- P26T (p.Pro26Thr), gnomAD 3-30606959-C-A, REVEL 0.23, CADD 24.00
- P26Q (p.Pro26Gln), gnomAD 3-30606960-C-A, REVEL 0.20, CADD 21.60
- P26R (p.Pro26Arg), gnomAD 3-30606960-C-G, REVEL 0.35, CADD 23.10
- P26P (p.Pro26Pro), rs753781287, gnomAD 3-30606961-G-A, CADD 15.40
- H27N (p.His27Asn), rs2125438820, ClinGen CA2573136198, ClinVar RCV001988032, Ensembl rs2125438820, REVEL 0.11, CADD 23.00, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- H27Q (p.His27Gln), rs1057520957, cosmic curated COSV55445, ClinGen CA351830617, ClinVar RCV004012536, REVEL 0.17, CADD 13.70, Uncertain significance, Loeys-Dietz syndrome 2
- H27T (p.His27Thr), gnomAD 3-30606960-CG-C, CADD 29.50
- H27R (p.His27Arg), gnomAD 3-30606963-A-G, REVEL 0.16, CADD 22.60
- H27H (p.His27His), rs1057520957, gnomAD 3-30606964-C-T, CADD 11.10
- H27Y (p.His27Tyr), rs2125454045, gnomAD 3-30623258-C-T, CADD 7.98
- V28A (p.Val28Ala), NCI-TCGA TCGA novel, Ensembl rs2125438833, Variant assessed as somatic; moderate impact.
- V28F (p.Val28Phe), TOPMed rs1225583022, REVEL 0.39, CADD 24.10, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- V28G (p.Val28Gly), Ensembl rs2125438833
- V28I (p.Val28Ile), TOPMed rs1225583022, REVEL 0.11, CADD 22.70
- V28L (p.Val28Leu), TOPMed rs1225583022
- V28V (p.Val28Val), rs1346848767, gnomAD 3-30606967-T-C, CADD 14.30
- Q29* (p.Gln29Ter), NCI-TCGA Cosmic COSV9984, cosmic curated COSV99847, CADD 37.00, Variant assessed as somatic; high impact.
- Q29H (p.Gln29His), rs1224678519, cosmic curated COSV55464, ClinGen CA351830631, ClinVar RCV003382251, REVEL 0.15, CADD 21.60, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- Q29L (p.Gln29Leu), Ensembl rs2125438839
- Q29K (p.Gln29Lys), gnomAD 3-30606968-C-A, REVEL 0.16, CADD 18.90
- Q29R (p.Gln29Arg), gnomAD 3-30606969-A-G, REVEL 0.21, CADD 14.90
- Q29Q (p.Gln29Gln), rs1224678519, gnomAD 3-30606970-G-A, CADD 13.80
- K30R (p.Lys30Arg), gnomAD rs1269086905
- K30E (p.Lys30Glu), gnomAD 3-30606971-A-G, REVEL 0.35, CADD 25.10
- K30Q (p.Lys30Gln), gnomAD 3-30606971-A-C, REVEL 0.29, CADD 24.70
- K30M (p.Lys30Met), gnomAD 3-30606972-A-T, REVEL 0.54, CADD 25.20
- K30K (p.Lys30Lys), gnomAD 3-30606973-G-A, CADD 15.50
- K30N (p.Lys30Asn), gnomAD 3-30606973-G-T, REVEL 0.17, CADD 24.50
- S31* (p.Ser31Ter), Ensembl rs2125438850, CADD 40.00
- S31A (p.Ser31Ala), rs761400349, ClinGen CA050162, ClinVar RCV001982374, ClinVar RCV004010968, REVEL 0.19, CADD 23.70, Conflicting interpretations, Loeys-Dietz syndrome 2; Familial thoracic aortic aneurysm and aortic dissection
- S31T (p.Ser31Thr), ExAC rs761400349, TOPMed rs761400349, gnomAD rs761400349, REVEL 0.18, CADD 23.40, Uncertain significance
- S31L (p.Ser31Leu), gnomAD 3-30606975-C-T, REVEL 0.16, CADD 29.00
- S31S (p.Ser31Ser), gnomAD 3-30606976-G-T, CADD 18.10
- V32F (p.Val32Phe), rs2125438854, ClinGen CA351830647, ClinVar RCV001876458, Ensembl rs2125438854, REVEL 0.18, CADD 33.00, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- V32I (p.Val32Ile), gnomAD 3-30606977-G-A, REVEL 0.17, CADD 32.00
- V32M (p.Val32Met), rs1698265767, gnomAD 3-30623201-G-A, CADD 10.50
- V32V (p.Val32Val), rs766383517, gnomAD 3-30623203-G-A, CADD 8.27
- N33S (p.Asn33Ser), rs2125404654, ClinGen CA351806295, ClinVar RCV001524902, ClinVar RCV004008805, AlphaMissense 0.06, MetaLR 0.35, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 2
- N33T (p.Asn33Thr), rs2125404654, ClinGen CA351806294, ClinVar RCV001935341, Ensembl rs2125404654, AlphaMissense 0.06, MetaLR 0.35, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- N33N (p.Asn33Asn), gnomAD 3-30644751-T-C, CADD 0.18
- N34Y (p.Asn34Tyr), gnomAD 3-30644752-A-T, REVEL 0.27, CADD 17.30
- N34N (p.Asn34Asn), rs753739611, gnomAD 3-30644754-C-T, CADD 0.28
- N34K (p.Asn34Lys), gnomAD 3-30644754-C-A, REVEL 0.20, CADD 0.15
- D35E (p.Asp35Glu), Ensembl rs1575143650
- D35H (p.Asp35His), rs984098699, ClinGen CA351806307, ClinVar RCV001184599, ClinVar RCV004008469, REVEL 0.25, CADD 22.80, Uncertain significance, Loeys-Dietz syndrome 2; Familial thoracic aortic aneurysm and aortic dissection
- D35N (p.Asp35Asn), rs984098699, ClinGen CA71499877, NCI-TCGA Cosmic COSV5545, REVEL 0.23, CADD 16.00, Conflicting interpretations, Diabetic retinopathy; not specified; Familial thoracic aortic aneurysm and aorti
- D35Y (p.Asp35Tyr), cosmic curated COSV55456
- D35G (p.Asp35Gly), gnomAD 3-30623199-A-G, CADD 22.40
- D35D (p.Asp35Asp), gnomAD 3-30623200-T-C, CADD 10.90
- M36I (p.Met36Ile), cosmic curated COSV55454, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- M36L (p.Met36Leu), 1000Genomes rs17025864, ESP rs17025864, ExAC rs17025864, TOPMed rs17025864, Likely benign
- M36V (p.Met36Val), rs17025864, ClinGen CA045593, ClinVar RCV000242516, ClinVar RCV000828695, REVEL 0.18, CADD 0.57, Likely benign, Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 2
- M36T (p.Met36Thr), rs1451110889, gnomAD 3-30623208-T-C, CADD 14.80
- I37L (p.Ile37Leu), rs969666859, ClinGen CA351806322, ClinVar RCV003528699, AlphaMissense 0.06, MetaLR 0.33, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- I37V (p.Ile37Val), rs969666859, ClinGen CA71499880, ClinVar RCV002926866, TOPMed rs969666859, REVEL 0.20, AlphaMissense 0.06, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- I37S (p.Ile37Ser), gnomAD 3-30623225-GA-G, CADD 22.70
- I37I (p.Ile37Ile), gnomAD 3-30623230-C-A, CADD 7.93
- I37T (p.Ile37Thr), gnomAD 3-30644762-T-C, REVEL 0.28, CADD 21.90
- V38I (p.Val38Ile), cosmic curated COSV55454, REVEL 0.18, CADD 15.00
Public TGFBR2 analysis runs
- TGFBR2 analysis run — TGFBR2 (2,235 variants) — completed 2026-08-18