TERT (Telomerase reverse transcriptase) variants and mutations
TERT (also known as Telomerase reverse transcriptase) is a human protein-coding gene encoding a telomerase reverse transcriptase protein. It extends telomeric DNA using an internal RNA template and helps counter progressive chromosome-end shortening in stem and proliferative cells. Loss-of-function variants cause telomere-biology disorders, while promoter activation and increased activity support unlimited proliferation in many cancers. This analysis covers 2,142 TERT variants and mutations. Of these, 85% have computational variant effect predictions. Disease context includes dyskeratosis congenita, autosomal dominant 2, pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1, and dyskeratosis congenita. Example TERT variants include P2A, P2L, and P2R.
Variant analysis overview
- Gene: TERT
- Protein: Telomerase reverse transcriptase
- UniProt accession: O14746
- Organism: Homo sapiens
- Variants analyzed: 2142
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 1,986 unspecified-consequence records; 84 synonymous variants; 52 missense variants; 6 frameshift variants; 4 splice-region variants; 3 stop-gained variants; 1 in-frame deletions; 6 substitution
- Prediction scores: 1,814 variants have prediction scores (85% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: dyskeratosis congenita, autosomal dominant 2, pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1, dyskeratosis congenita, idiopathic pulmonary fibrosis, acute myeloid leukemia, autosomal recessive dyskeratosis congenita 4, aplastic anemia, melanoma, cutaneous malignant, susceptibility to, 9, interstitial lung disease, pulmonary fibrosis, myelodysplastic syndrome, hepatocellular carcinoma.
Protein structure and variant hotspots
- Protein features: 1 domains; 3 binding sites; 3 post-translational modification sites.
- Structural context: 512 variants have structural context.
- PTM context: 3 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 TERT variants
Examples include P2A, P2L, P2R, P2T, R3C, R3H, R3P, A4P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- P2A (p.Pro2Ala), rs1751303585, ClinGen CA359060101, ClinVar RCV002552776, ClinVar RCV003475137, Uncertain significance, Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2
- P2L (p.Pro2Leu), rs1751303315, ClinGen CA359060090, ClinVar RCV002538480, Ensembl rs1751303315, REVEL 0.20, MetaLR 0.65, Uncertain significance, Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2
- P2R (p.Pro2Arg), rs1751303315, ClinGen CA359060096, ClinVar RCV003103958, Ensembl rs1751303315, REVEL 0.29, MetaLR 0.74, Uncertain significance, Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2
- P2T (p.Pro2Thr), rs1751303585, ClinGen CA359060100, ClinVar RCV002555232, TOPMed rs1751303585, REVEL 0.13, MetaLR 0.44, Uncertain significance, Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis
- R3C (p.Arg3Cys), TOPMed rs1166646936, REVEL 0.68, MetaLR 0.84
- R3H (p.Arg3His), Ensembl rs2126693146, REVEL 0.46, MetaLR 0.86, Uncertain significance
- R3P (p.Arg3Pro), rs2126693146, ClinGen CA359060072, ClinVar RCV002563612, Ensembl rs2126693146, REVEL 0.58, MetaLR 0.86, Uncertain significance, Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2
- A4P (p.Ala4Pro), rs1579599369, ClinGen CA359060066, ClinVar RCV002537402, Ensembl rs1579599369, REVEL 0.47, MetaLR 0.81, Uncertain significance, Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2
- A4S (p.Ala4Ser), Ensembl rs1579599369, REVEL 0.27, MetaLR 0.61, Uncertain significance
- A4T (p.Ala4Thr), Ensembl rs1579599369, REVEL 0.29, MetaLR 0.78, Uncertain significance
- P5L (p.Pro5Leu), Ensembl rs2126693086, REVEL 0.31, MetaLR 0.67
- P5S (p.Pro5Ser), Ensembl rs2126693096, REVEL 0.33, MetaLR 0.69
- R6C (p.Arg6Cys), rs2478436799, NCI-TCGA TCGA novel, ClinGen CA2673080995, ClinVar RCV003805207, REVEL 0.54, MetaLR 0.81, Pathogenic
- R6G (p.Arg6Gly), rs1751302097, ClinGen CA359060013, ClinVar RCV002552518, Ensembl rs1751302097, REVEL 0.43, MetaLR 0.73, Uncertain significance, Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis; Dys
- C7* (p.Cys7Ter), TOPMed rs1447706663, gnomAD rs1447706663, CADD 35.00, Likely benign
- C7F (p.Cys7Phe), Ensembl rs1751301663, REVEL 0.33, MetaLR 0.78, Uncertain significance
- C7R (p.Cys7Arg), Ensembl rs2126693050, REVEL 0.43, MetaLR 0.81
- C7S (p.Cys7Ser), Ensembl rs1751301663, Uncertain significance
- C7W (p.Cys7Trp), TOPMed rs1447706663, gnomAD rs1447706663, MetaLR 0.74, MetaSVM 0.33, Likely benign
- C7Y (p.Cys7Tyr), rs1751301663, ClinGen CA359059971, ClinVar RCV002510764, Ensembl rs1751301663, REVEL 0.50, MetaLR 0.86, Uncertain significance, Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis
- R8* (p.Arg8Ter), Ensembl rs1579599353, CADD 34.00, Likely benign
- R8G (p.Arg8Gly), rs1579599353, ClinGen CA359059950, ClinVar RCV002535875, Ensembl rs1579599353, REVEL 0.37, MetaLR 0.68, Uncertain significance, Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis
- R8L (p.Arg8Leu), rs1379224925, ClinVar RCV004561431, TOPMed rs1379224925, gnomAD rs1379224925, REVEL 0.29, MetaLR 0.64, Uncertain significance, Dyskeratosis congenita
- R8P (p.Arg8Pro), TOPMed rs1379224925, gnomAD rs1379224925, REVEL 0.18, MetaLR 0.55, Uncertain significance
- R8Q (p.Arg8Gln), rs1379224925, ClinGen CA359059938, ClinVar RCV002903729, TOPMed rs1379224925, REVEL 0.25, MetaLR 0.75, Uncertain significance, Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2
- A9P (p.Ala9Pro), cosmic curated COSV57245, Ensembl rs2126692971, REVEL 0.42, MetaLR 0.73
- A9S (p.Ala9Ser), Ensembl rs2126692971, REVEL 0.30, MetaLR 0.65
- A9T (p.Ala9Thr), Ensembl rs2126692971, REVEL 0.29, MetaLR 0.58
- A9V (p.Ala9Val), rs2126692963, ClinGen CA359059921, ClinVar RCV003798462, Ensembl rs2126692963, REVEL 0.37, MetaLR 0.82, Uncertain significance, Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis
- V10A (p.Val10Ala), Ensembl rs2126692921, REVEL 0.60, MetaLR 0.81
- V10E (p.Val10Glu), Ensembl rs2126692921
- V10G (p.Val10Gly), Ensembl rs2126692921, MetaLR 0.82, MetaSVM 0.69
- V10L (p.Val10Leu), Ensembl rs2126692939, REVEL 0.42, MetaLR 0.79
- V10M (p.Val10Met), Ensembl rs2126692939, REVEL 0.56, MetaLR 0.86
- R11C (p.Arg11Cys), cosmic curated COSV10737, Ensembl rs2126692899, REVEL 0.74, MetaLR 0.86
- R11G (p.Arg11Gly), Ensembl rs2126692899, REVEL 0.52, MetaLR 0.80
- R11H (p.Arg11His), Ensembl rs2126692884, REVEL 0.55, MetaLR 0.81, Uncertain significance
- R11L (p.Arg11Leu), Ensembl rs2126692884, REVEL 0.52, MetaLR 0.70, Uncertain significance
- R11P (p.Arg11Pro), rs2126692884, ClinGen CA359059891, ClinVar RCV003072361, Ensembl rs2126692884, REVEL 0.74, MetaLR 0.83, Uncertain significance, Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis
- S12A (p.Ser12Ala), Ensembl rs2126692858, Uncertain significance
- S12F (p.Ser12Phe), Ensembl rs2126692854, REVEL 0.30, MetaLR 0.79
- S12P (p.Ser12Pro), rs2126692858, ClinGen CA359059882, ClinVar RCV003806565, Ensembl rs2126692858, REVEL 0.28, MetaLR 0.73, Uncertain significance, Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis
- S12T (p.Ser12Thr), Ensembl rs2126692858, Uncertain significance
- L13P (p.Leu13Pro), Ensembl rs2126692819, REVEL 0.61, MetaLR 0.83
- L13V (p.Leu13Val), rs2126692825, ClinVar RCV004561332, Ensembl rs2126692825, Uncertain significance, Dyskeratosis congenita
- L14M (p.Leu14Met), rs2126692794, ClinGen CA359059843, ClinVar RCV003781034, Ensembl rs2126692794, REVEL 0.63, MetaLR 0.85, Uncertain significance, Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis
- R15C (p.Arg15Cys), Ensembl rs2126692769, REVEL 0.79, MetaLR 0.85, Uncertain significance, Dyskeratosis congenita
- R15G (p.Arg15Gly), Ensembl rs2126692769, REVEL 0.79, MetaLR 0.85
- R15H (p.Arg15His), rs2126692755, ClinGen CA359059820, ClinVar RCV003441629, ClinVar RCV005505671, REVEL 0.67, MetaLR 0.82, Uncertain significance, not provided; Dyskeratosis congenita
- R15L (p.Arg15Leu), Ensembl rs2126692755, REVEL 0.73, MetaLR 0.83, Uncertain significance
- R15P (p.Arg15Pro), Ensembl rs2126692755, MetaLR 0.84, MetaSVM 0.82, Uncertain significance
- R15S (p.Arg15Ser), Ensembl rs2126692769, REVEL 0.76, MetaLR 0.84
- S16C (p.Ser16Cys), Ensembl rs2126692725, Uncertain significance
- S16G (p.Ser16Gly), rs2126692725, ClinGen CA359059790, ClinVar RCV004559384, Ensembl rs2126692725, REVEL 0.09, MetaLR 0.34, Uncertain significance, Dyskeratosis congenita
- S16N (p.Ser16Asn), rs2126692712, ClinGen CA359059779, ClinVar RCV003789298, Ensembl rs2126692712, REVEL 0.25, MetaLR 0.60, Uncertain significance, Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis
- S16R (p.Ser16Arg), Ensembl rs1489859089, REVEL 0.11, MetaLR 0.55, Uncertain significance
- S16T (p.Ser16Thr), Ensembl rs2126692712, REVEL 0.20, MetaLR 0.53, Uncertain significance
- H17L (p.His17Leu), cosmic curated COSV10942, Ensembl rs2126692678, Uncertain significance, Dyskeratosis congenita
- H17N (p.His17Asn), TOPMed rs1348895488, gnomAD rs1348895488, REVEL 0.09, MetaLR 0.45, Uncertain significance
- H17P (p.His17Pro), Ensembl rs2126692678, MetaLR 0.47, MetaSVM -0.43
- H17R (p.His17Arg), Ensembl rs2126692678, REVEL 0.14, MetaLR 0.26, Likely benign, Dyskeratosis congenita
- H17Y (p.His17Tyr), rs1348895488, ClinGen CA359059749, ClinVar RCV003056958, ClinVar RCV005752148, REVEL 0.15, MetaLR 0.42, Uncertain significance, Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2; Dys
- Y18F (p.Tyr18Phe), Ensembl rs2126692650
- Y18H (p.Tyr18His), Ensembl rs2126692659, REVEL 0.59, MetaLR 0.80
- Y18S (p.Tyr18Ser), Ensembl rs2126692650, MetaLR 0.77, MetaSVM 0.63
- R19C (p.Arg19Cys), Ensembl rs2126692636, REVEL 0.67, MetaLR 0.86, Uncertain significance
- R19G (p.Arg19Gly), rs2126692636, ClinGen CA359059672, ClinVar RCV004560105, Ensembl rs2126692636, REVEL 0.66, MetaLR 0.79, Uncertain significance, Dyskeratosis congenita
- R19H (p.Arg19His), Ensembl rs2126692628, REVEL 0.47, MetaLR 0.84
- R19P (p.Arg19Pro), Ensembl rs2126692628, MetaLR 0.80, MetaSVM 0.32
- R19S (p.Arg19Ser), Ensembl rs2126692636, REVEL 0.51, MetaLR 0.83, Uncertain significance
- E20* (p.Glu20Ter), cosmic curated COSV10511, Ensembl rs2126692596, CADD 35.00, Uncertain significance
- E20A (p.Glu20Ala), Ensembl rs2126692581, Uncertain significance
- E20D (p.Glu20Asp), TOPMed rs1751299200, REVEL 0.20, MetaLR 0.64, Likely benign
- E20G (p.Glu20Gly), rs2126692581, ClinVar RCV004590616, Ensembl rs2126692581, REVEL 0.35, MetaLR 0.74, Uncertain significance, not provided
- E20K (p.Glu20Lys), Ensembl rs2126692596, REVEL 0.34, MetaLR 0.66, Uncertain significance
- E20Q (p.Glu20Gln), rs2126692596, ClinGen CA359059647, ClinVar RCV002548637, Ensembl rs2126692596, REVEL 0.21, MetaLR 0.51, Uncertain significance, Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis
- E20V (p.Glu20Val), Ensembl rs2126692581, MetaLR 0.51, MetaSVM -0.50, Uncertain significance
- V21E (p.Val21Glu), Ensembl rs2126692557
- V21G (p.Val21Gly), Ensembl rs2126692557, MetaLR 0.83, MetaSVM 0.76
- V21L (p.Val21Leu), Ensembl rs2126692567, REVEL 0.57, MetaLR 0.85
- L22M (p.Leu22Met), Ensembl rs2126692539, REVEL 0.23, MetaLR 0.78, Likely benign
- L22P (p.Leu22Pro), Ensembl rs2126692528, REVEL 0.69, MetaLR 0.82
- L22R (p.Leu22Arg), Ensembl rs2126692528
- P23A (p.Pro23Ala), Ensembl rs2126692512, REVEL 0.42, MetaLR 0.82, Uncertain significance
- P23L (p.Pro23Leu), Ensembl rs2126692506, REVEL 0.57, MetaLR 0.85, Uncertain significance, Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
- P23Q (p.Pro23Gln), rs2126692506, ClinVar RCV004561354, Ensembl rs2126692506, REVEL 0.46, MetaLR 0.85, Uncertain significance, Dyskeratosis congenita
- P23R (p.Pro23Arg), Ensembl rs2126692506, REVEL 0.58, MetaLR 0.85, Uncertain significance
- P23S (p.Pro23Ser), rs2126692512, ClinGen CA359059568, ClinVar RCV003807271, Ensembl rs2126692512, REVEL 0.38, MetaLR 0.81, Uncertain significance, Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2
- L24P (p.Leu24Pro), Ensembl rs2126692475, REVEL 0.80, MetaLR 0.86
- L24Q (p.Leu24Gln), Ensembl rs2126692475
- L24R (p.Leu24Arg), Ensembl rs2126692475
- A25P (p.Ala25Pro), Ensembl rs2126692449
- A25T (p.Ala25Thr), Ensembl rs2126692449, REVEL 0.28, MetaLR 0.79, Uncertain significance, not provided
- T26A (p.Thr26Ala), rs1579599309, ClinGen CA359059504, ClinVar RCV002537121, ClinVar RCV003141795, REVEL 0.12, MetaLR 0.66, Conflicting interpretations, Dyskeratosis congenita; Dyskeratosis congenita, autosomal dominant 2; Idiopathic
- T26K (p.Thr26Lys), rs760727529, ClinGen CA359059499, ClinVar RCV002547514, ExAC rs760727529, REVEL 0.34, MetaLR 0.77, Uncertain significance, Dyskeratosis congenita; Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, a
- T26M (p.Thr26Met), rs760727529, ClinGen CA3185025, ClinVar RCV002550983, ClinVar RCV004558685, REVEL 0.30, MetaLR 0.81, Conflicting interpretations, Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2; Dys
- T26R (p.Thr26Arg), ExAC rs760727529, TOPMed rs760727529, gnomAD rs760727529, MetaLR 0.79, MetaSVM 0.24, Likely benign
- F27C (p.Phe27Cys), Ensembl rs2126692379
- F27L (p.Phe27Leu), Ensembl rs2126692389, REVEL 0.46, MetaLR 0.74, Uncertain significance, Dyskeratosis congenita
- F27S (p.Phe27Ser), Ensembl rs2126692379, REVEL 0.69, MetaLR 0.75
- F27V (p.Phe27Val), Ensembl rs2126692389, MetaLR 0.74, MetaSVM 0.53
- F27Y (p.Phe27Tyr), Ensembl rs2126692379, REVEL 0.50, MetaLR 0.71
- V28A (p.Val28Ala), Ensembl rs1561215157, REVEL 0.12, MetaLR 0.56, Uncertain significance
- V28E (p.Val28Glu), Ensembl rs1561215157, Uncertain significance
- V28G (p.Val28Gly), rs1561215157, ClinGen CA359059472, ClinVar RCV002509512, ClinVar RCV002544804, REVEL 0.56, MetaLR 0.66, Uncertain significance, Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2
- V28L (p.Val28Leu), rs1060503000, ClinGen CA16611735, ClinVar RCV001753900, ClinVar RCV002526429, Uncertain significance, not provided; Dyskeratosis congenita; Dyskeratosis congenita, autosomal dominant
- V28M (p.Val28Met), TOPMed rs1060503000, REVEL 0.29, MetaLR 0.72, Uncertain significance, Dyskeratosis congenita
- R29G (p.Arg29Gly), Ensembl rs1024973528, REVEL 0.25, MetaLR 0.57, Likely benign
- R29P (p.Arg29Pro), Ensembl rs2126692318, REVEL 0.63, MetaLR 0.76
- R29Q (p.Arg29Gln), Ensembl rs2126692318, REVEL 0.27, MetaLR 0.65
- R29W (p.Arg29Trp), Ensembl rs1024973528, REVEL 0.36, MetaLR 0.68, Likely benign
- R30C (p.Arg30Cys), rs2126692283, ClinGen CA359059456, ClinVar RCV001822619, ClinVar RCV004779144, REVEL 0.67, MetaLR 0.70, Uncertain significance, not provided; not specified
- R30G (p.Arg30Gly), rs2126692283, ClinVar RCV004561365, Ensembl rs2126692283, Uncertain significance, Dyskeratosis congenita
- R30H (p.Arg30His), Ensembl rs2126692273, REVEL 0.62, MetaLR 0.80
- R30P (p.Arg30Pro), Ensembl rs2126692273, REVEL 0.75, MetaLR 0.80
- R30S (p.Arg30Ser), Ensembl rs2126692283, REVEL 0.63, MetaLR 0.78, Uncertain significance, Dyskeratosis congenita
- L31P (p.Leu31Pro), Ensembl rs2126692248, REVEL 0.70, MetaLR 0.72
- L31Q (p.Leu31Gln), cosmic curated COSV10461, Ensembl rs2126692248, REVEL 0.67, MetaLR 0.84
- L31R (p.Leu31Arg), Ensembl rs2126692248, REVEL 0.72, MetaLR 0.84
- G32A (p.Gly32Ala), Ensembl rs2126692220
- G32E (p.Gly32Glu), Ensembl rs2126692220
- G32R (p.Gly32Arg), Ensembl rs2126692230, REVEL 0.36, MetaLR 0.63
- G32W (p.Gly32Trp), Ensembl rs2126692230, REVEL 0.52, MetaLR 0.84
- P33A (p.Pro33Ala), Ensembl rs199422289
- P33H (p.Pro33His), Ensembl rs2126692176, REVEL 0.20, MetaLR 0.65, Uncertain significance, Dyskeratosis congenita
- P33L (p.Pro33Leu), rs2126692176, ClinGen CA359059375, ClinVar RCV002554261, ClinVar RCV005503233, REVEL 0.16, MetaLR 0.38, Uncertain significance, Dyskeratosis congenita; Dyskeratosis congenita, autosomal dominant 2; Idiopathic
- P33R (p.Pro33Arg), Ensembl rs2126692176, MetaLR 0.61, MetaSVM -0.35, Uncertain significance
- P33S (p.Pro33Ser), rs199422289, ClinGen CA343464, ClinVar RCV000032401, ClinVar RCV002509179, REVEL 0.61, MetaLR 0.55, Likely risk allele, Pulmonary fibrosis
- Q34* (p.Gln34Ter), Ensembl rs2126692150, CADD 31.00
- Q34H (p.Gln34His), gnomAD rs1751296255, REVEL 0.23, MetaLR 0.62, Likely benign
- Q34K (p.Gln34Lys), Ensembl rs2126692150, REVEL 0.24, MetaLR 0.46
- Q34P (p.Gln34Pro), rs2478434765, ClinVar RCV004561376, Uncertain significance, Dyskeratosis congenita
- G35A (p.Gly35Ala), Ensembl rs2126692114, REVEL 0.44, MetaLR 0.92, Uncertain significance
- G35D (p.Gly35Asp), rs2126692114, ClinGen CA359059328, ClinVar RCV002555608, Ensembl rs2126692114, REVEL 0.48, MetaLR 0.94, Uncertain significance, Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis
- G35S (p.Gly35Ser), Ensembl rs2126692128, REVEL 0.48, MetaLR 0.94
- G35V (p.Gly35Val), rs2126692114, ClinGen CA359059325, ClinVar RCV003802702, Ensembl rs2126692114, REVEL 0.69, MetaLR 0.94, Uncertain significance, Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis
- W36* (p.Trp36Ter), Ensembl rs2126692080, CADD 32.00
- W36G (p.Trp36Gly), Ensembl rs2126692090
- W36R (p.Trp36Arg), Ensembl rs2126692090, REVEL 0.17, MetaLR 0.34
- R37G (p.Arg37Gly), rs2126692072, ClinGen CA359059300, ClinVar RCV002560544, Ensembl rs2126692072, REVEL 0.41, MetaLR 0.79, Uncertain significance, Dyskeratosis congenita; Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, a
- R37L (p.Arg37Leu), rs1239502548, ClinGen CA359059287, ClinVar RCV002597618, REVEL 0.20, MetaLR 0.58, Uncertain significance, Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis; Dys
- R37P (p.Arg37Pro), rs1239502548, ClinGen CA359059292, ClinVar RCV003815311, gnomAD rs1239502548, Uncertain significance, Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis
- R37Q (p.Arg37Gln), rs1239502548, ClinGen CA359059295, ClinVar RCV002562570, ClinVar RCV005036486, REVEL 0.26, MetaLR 0.71, Uncertain significance, Acute myeloid leukemia; Melanoma, cutaneous malignant, susceptibility to, 9; Pul
- L38M (p.Leu38Met), rs1004308241, ClinGen CA112915579, ClinVar RCV002547522, ClinVar RCV004727183, REVEL 0.32, MetaLR 0.83, Uncertain significance, not provided; Dyskeratosis congenita; Idiopathic Pulmonary Fibrosis
- L38Q (p.Leu38Gln), Ensembl rs2126692031, REVEL 0.57, MetaLR 0.80
- L38V (p.Leu38Val), TOPMed rs1004308241, REVEL 0.23, MetaLR 0.77, Likely benign
- V39E (p.Val39Glu), Ensembl rs2126691998, REVEL 0.77, MetaLR 0.84
- V39L (p.Val39Leu), rs1751294892, Ensembl rs1751294892, ClinGen CA359059243, ClinVar RCV002563368, REVEL 0.28, MetaLR 0.71, Uncertain significance, Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis; not
- V39M (p.Val39Met), Ensembl rs1751294892, REVEL 0.44, MetaLR 0.86, Uncertain significance
- Q40* (p.Gln40Ter), Ensembl rs2126691976, CADD 35.00
- Q40E (p.Gln40Glu), Ensembl rs2126691976
- Q40H (p.Gln40His), rs1751294429, Ensembl rs1751294429, ClinGen CA359059207, ClinVar RCV002553806, REVEL 0.31, MetaLR 0.69, Uncertain significance, Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2; Dys
- Q40K (p.Gln40Lys), Ensembl rs2126691976, REVEL 0.25, MetaLR 0.69
- Q40L (p.Gln40Leu), rs1751294652, ClinGen CA359059212, ClinVar RCV002552461, Ensembl rs1751294652, Uncertain significance, Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis
- Q40R (p.Gln40Arg), Ensembl rs1751294652, REVEL 0.16, MetaLR 0.39, Uncertain significance
- R41C (p.Arg41Cys), rs2126691944, ClinGen CA359059198, ClinVar RCV003790444, ClinVar RCV005752291, REVEL 0.41, MetaLR 0.78, Uncertain significance, Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2; Dys
- R41G (p.Arg41Gly), rs2126691944, ClinVar RCV004561351, Ensembl rs2126691944, REVEL 0.21, MetaLR 0.65, Uncertain significance, Dyskeratosis congenita
- R41H (p.Arg41His), gnomAD rs1176288815, REVEL 0.24, MetaLR 0.76
- R41L (p.Arg41Leu), gnomAD rs1176288815, REVEL 0.30, MetaLR 0.71
- G42R (p.Gly42Arg), rs1751293669, ClinGen CA359059186, ClinVar RCV002561671, Ensembl rs1751293669, REVEL 0.51, MetaLR 0.94, Uncertain significance, Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2; Int
- G42V (p.Gly42Val), Ensembl rs2126691890, REVEL 0.63, MetaLR 0.94
- G42W (p.Gly42Trp), Ensembl rs1751293669, REVEL 0.55, MetaLR 0.95, Uncertain significance
- D43E (p.Asp43Glu), ExAC rs772537721, TOPMed rs772537721, gnomAD rs772537721, REVEL 0.65, MetaLR 0.84, Likely benign
- D43G (p.Asp43Gly), Ensembl rs1751293266, REVEL 0.71, MetaLR 0.82
- D43N (p.Asp43Asn), rs1579599236, ClinGen CA359059174, cosmic curated COSV10511, ClinVar RCV002509546, REVEL 0.58, MetaLR 0.87, Uncertain significance, Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2
- P44L (p.Pro44Leu), rs2126691833, ClinGen CA359059131, ClinVar RCV002555650, ClinVar RCV005505284, REVEL 0.56, MetaLR 0.81, Uncertain significance, Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2; Dys
- P44Q (p.Pro44Gln), Ensembl rs2126691833, MetaLR 0.77, MetaSVM 0.38, Uncertain significance
- P44R (p.Pro44Arg), Ensembl rs2126691833, REVEL 0.57, MetaLR 0.81, Uncertain significance
- P44S (p.Pro44Ser), rs2126691846, ClinGen CA359059138, ClinVar RCV002261761, Ensembl rs2126691846, REVEL 0.38, MetaLR 0.76, Uncertain significance, not provided
- A45E (p.Ala45Glu), Ensembl rs1751292811, Uncertain significance
- A45G (p.Ala45Gly), Ensembl rs1751292811, MetaLR 0.71, MetaSVM -0.13, Uncertain significance
- A45V (p.Ala45Val), rs1751292811, ClinGen CA359059118, ClinVar RCV003095013, ClinVar RCV004559471, REVEL 0.21, MetaLR 0.62, Uncertain significance, Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis; Dys
- A46G (p.Ala46Gly), Ensembl rs2126691787, REVEL 0.12, MetaLR 0.67
- A46S (p.Ala46Ser), rs1579599228, ClinGen CA359059112, ClinVar RCV002258324, ClinVar RCV002557667, REVEL 0.24, MetaLR 0.62, Uncertain significance, Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2; Dys
- A46T (p.Ala46Thr), rs1579599228, ClinGen CA359059116, ClinVar RCV002534648, ClinVar RCV004822208, REVEL 0.21, MetaLR 0.66, Uncertain significance, Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis; Dys
- F47L (p.Phe47Leu), Ensembl rs2126691769, REVEL 0.45, MetaLR 0.57
- R48C (p.Arg48Cys), rs1554043151, ClinGen CA359059080, cosmic curated COSV57240, ClinVar RCV002560707, REVEL 0.72, MetaLR 0.87, Uncertain significance, Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2
- R48G (p.Arg48Gly), rs1554043151, ClinGen CA359059082, ClinVar RCV000660546, Ensembl rs1554043151, Uncertain significance, Dyskeratosis congenita, autosomal dominant 2
- R48H (p.Arg48His), rs1751291943, ClinGen CA359059074, ClinVar RCV002554407, Ensembl rs1751291943, REVEL 0.58, MetaLR 0.86, Uncertain significance, Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis
- R48P (p.Arg48Pro), Ensembl rs1751291943, MetaLR 0.84, MetaSVM 0.29, Uncertain significance
Public TERT analysis runs
- TERT analysis run — TERT (2,142 variants) — completed 2026-08-18