POT1 (Q9NUX5) variants and mutations
POT1 (also known as Q9NUX5) is a human protein-coding gene encoding a protection of telomeres protein 1 protein. It binds the single-stranded ends of telomeres and helps control telomerase access while preventing chromosome ends from being mistaken for DNA breaks. Germline loss-of-function variants predispose to several cancers, including melanoma, glioma, and chronic lymphocytic leukemia, and can produce unusually long telomeres. This analysis covers 1,567 POT1 variants and mutations. Of these, 67% have computational variant effect predictions. Disease context includes tumor predisposition syndrome 3, B-cell chronic lymphocytic leukemia, and familial melanoma. Example POT1 variants include M1?, M1I, and M1T.
Variant analysis overview
- Gene: POT1
- Protein: Q9NUX5
- UniProt accession: Q9NUX5
- Organism: Homo sapiens
- Variants analyzed: 1567
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 1,419 unspecified-consequence records; 1 stop retained variant; 51 synonymous variants; 13 frameshift variants; 62 missense variants; 3 in-frame deletions; 6 stop-gained variants; 5 splice-region variants; 7 substitution
- Prediction scores: 1,057 variants have prediction scores (67% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: tumor predisposition syndrome 3, B-cell chronic lymphocytic leukemia, familial melanoma, Inherited cancer-predisposing syndrome, hereditary neoplastic syndrome, pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8, neurodegenerative disease, cerebroretinal microangiopathy with calcifications and cysts 3, plasma cell myeloma, lung carcinoma, uterine corpus leiomyoma, lymphoid neoplasm.
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 POT1 variants
Examples include M1?, M1I, M1T, S2C, S2F, S2T, S2Y, L3S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, rs1584510207, ClinGen CA369066378, NCI-TCGA Cosmic COSV6292, Pathogenic
- M1I (p.Met1Ile), rs2485575164, ClinGen CA369066372, ClinVar RCV003746987, Uncertain significance, Tumor predisposition syndrome 3
- M1T (p.Met1Thr), rs2116643224, ClinGen CA369066376, ClinVar RCV002014245, Pathogenic, Tumor predisposition syndrome 3
- S2C (p.Ser2Cys), NCI-TCGA Cosmic COSV6292, Variant assessed as somatic; moderate impact.
- S2F (p.Ser2Phe), rs2485575150, ClinGen CA369066365, ClinVar RCV003746195, REVEL 0.23, CADD 27.40, Uncertain significance, Tumor predisposition syndrome 3
- S2T (p.Ser2Thr), rs2485575155, ClinGen CA369066368, ClinVar RCV002343063, Uncertain significance, Hereditary cancer-predisposing syndrome
- S2Y (p.Ser2Tyr), NCI-TCGA Cosmic COSV6292, REVEL 0.23, CADD 26.40, Variant assessed as somatic; moderate impact.
- L3S (p.Leu3Ser), rs1221048621, ClinGen CA369066361, ClinVar RCV001349627, TOPMed rs1221048621, REVEL 0.19, CADD 25.10, Uncertain significance, Tumor predisposition syndrome 3
- V4D (p.Val4Asp), rs2116630010, ClinGen CA369066335, ClinVar RCV002024094, Ensembl rs2116630010, REVEL 0.07, CADD 23.10, Uncertain significance, Tumor predisposition syndrome 3
- P5L (p.Pro5Leu), Ensembl rs2116629990, REVEL 0.03, CADD 35.00
- P5S (p.Pro5Ser), rs1378378085, NCI-TCGA Cosmic COSV6292, gnomAD rs1378378085, REVEL 0.04, CADD 23.50, Uncertain significance
- P5T (p.Pro5Thr), rs1378378085, ClinGen CA369066329, ClinVar RCV001067294, ClinVar RCV002393323, REVEL 0.02, CADD 27.30, Uncertain significance, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- A6E (p.Ala6Glu), rs1323783290, ClinGen CA369066316, ClinVar RCV003179314, ClinVar RCV005101225, REVEL 0.03, CADD 21.30, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3
- A6T (p.Ala6Thr), NCI-TCGA Cosmic COSV6292, REVEL 0.03, CADD 41.00, Uncertain significance, Tumor predisposition syndrome 3
- T7A (p.Thr7Ala), rs1584792050, ClinGen CA369066309, ClinVar RCV000812515, ClinVar RCV001013996, REVEL 0.03, CADD 14.70, Uncertain significance, Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3
- T7I (p.Thr7Ile), NCI-TCGA Cosmic COSV1007, REVEL 0.04, CADD 22.50, Variant assessed as somatic; moderate impact.
- T7K (p.Thr7Lys), rs2485562982, ClinGen CA369066306, ClinVar RCV002424186, ClinVar RCV003493952, REVEL 0.10, CADD 22.50, Conflicting interpretations, Tumor predisposition syndrome 3; not specified; Hereditary cancer-predisposing s
- N8D (p.Asn8Asp), rs1454480268, ClinGen CA369066299, ClinVar RCV001313168, ClinVar RCV003235545, REVEL 0.03, CADD 14.40, Uncertain significance, Tumor predisposition syndrome 3; not provided
- N8K (p.Asn8Lys), rs2485562966, ClinGen CA369066288, ClinVar RCV002455614, Uncertain significance, Hereditary cancer-predisposing syndrome
- N8T (p.Asn8Thr), NCI-TCGA Cosmic COSV6292, NCI-TCGA Cosmic COSV6293, Variant assessed as somatic; moderate impact.
- N8Y (p.Asn8Tyr), rs1454480268, ClinGen CA369066298, ClinVar RCV002035616, ClinVar RCV004045934, Uncertain significance, Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3
- Y9F (p.Tyr9Phe), rs2116629933, ClinGen CA369066278, ClinVar RCV001894892, Ensembl rs2116629933, Uncertain significance, Tumor predisposition syndrome 3
- I10L (p.Ile10Leu), rs1584792042, ClinGen CA369066273, ClinVar RCV001016907, ClinVar RCV003746576, REVEL 0.04, CADD 14.70, Conflicting interpretations, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- I10M (p.Ile10Met), rs367937904, ClinGen CA4465517, ClinVar RCV001050587, ClinVar RCV002280154, REVEL 0.05, CADD 13.70, Conflicting interpretations, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome; not pr
- I10T (p.Ile10Thr), rs1397305271, ClinGen CA369066267, ClinVar RCV002027686, ClinVar RCV003161287, REVEL 0.15, CADD 7.57, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3
- I10V (p.Ile10Val), rs1584792042, ClinGen CA369066272, ClinVar RCV003585431, ClinVar RCV005264424, REVEL 0.06, CADD 8.60, Conflicting interpretations, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- Y11* (p.Tyr11Ter), rs2485562923, ClinGen CA369066251, ClinVar RCV003584363, Pathogenic
- Y11C (p.Tyr11Cys), rs1796392612, ClinGen CA369066256, ClinVar RCV002628435, ClinVar RCV004070588, REVEL 0.85, CADD 27.60, Uncertain significance, Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3; not sp
- Y11H (p.Tyr11His), rs1584792034, ClinGen CA369066260, ClinVar RCV001019157, ClinVar RCV005093180, REVEL 0.78, CADD 26.80, Uncertain significance, Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3
- T12A (p.Thr12Ala), rs1330070498, ClinGen CA369066248, ClinVar RCV002459125, gnomAD rs1330070498, REVEL 0.29, CADD 24.10, Uncertain significance, Hereditary cancer-predisposing syndrome
- T12I (p.Thr12Ile), NCI-TCGA Cosmic COSV6292, Ensembl rs2116629866, REVEL 0.32, CADD 24.40, Variant assessed as somatic; moderate impact.
- P13H (p.Pro13His), rs2485562872, ClinGen CA369066233, ClinVar RCV002611116, REVEL 0.41, CADD 26.40, Uncertain significance, Tumor predisposition syndrome 3
- P13S (p.Pro13Ser), rs1584792028, ClinGen CA369066235, ClinVar RCV001021182, ClinVar RCV004773227, REVEL 0.28, CADD 24.10, Uncertain significance, not provided; Hereditary cancer-predisposing syndrome
- N15H (p.Asn15His), rs1554434768, ClinGen CA369066220, ClinVar RCV000567007, ClinVar RCV001062689, REVEL 0.13, CADD 23.50, Conflicting interpretations, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome; not pr
- N15S (p.Asn15Ser), rs764821384, ClinGen CA4465515, ClinVar RCV001312269, ClinVar RCV002327691, REVEL 0.07, CADD 23.20, Uncertain significance, Hereditary cancer; Hereditary cancer-predisposing syndrome; not provided
- Q16K (p.Gln16Lys), rs2485562832, ClinGen CA369066209, ClinVar RCV002330578, ClinVar RCV003746618, REVEL 0.07, CADD 18.60, Uncertain significance, Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3
- L17F (p.Leu17Phe), Ensembl rs2116629802
- K18R (p.Lys18Arg), rs1584792012, ClinGen CA369066178, ClinVar RCV001024034, ClinVar RCV003746579, REVEL 0.18, CADD 27.30, Uncertain significance, Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3
- G19D (p.Gly19Asp), rs1334143931, ClinGen CA369066163, ClinVar RCV002292054, ClinVar RCV003097804, REVEL 0.04, CADD 8.02, Uncertain significance, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome; not pr
- G19S (p.Gly19Ser), rs2116629790, ClinGen CA369066171, ClinVar RCV003064086, Ensembl rs2116629790, Uncertain significance, Tumor predisposition syndrome 3
- G19V (p.Gly19Val), rs1334143931, ClinGen CA369066167, ClinVar RCV002347563, ClinVar RCV003585259, REVEL 0.02, CADD 21.90, Uncertain significance, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- G20C (p.Gly20Cys), rs1796391890, ClinGen CA369066158, ClinVar RCV001870237, ClinVar RCV003164076, REVEL 0.45, CADD 26.00, Uncertain significance, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- G20R (p.Gly20Arg), rs1796391890, ClinGen CA369066160, ClinVar RCV003046578, ClinVar RCV005465866, Uncertain significance, Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3
- T21A (p.Thr21Ala), rs2485562748, ClinGen CA369066151, ClinVar RCV003076774, ClinVar RCV004070303, Uncertain significance, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- T21I (p.Thr21Ile), rs758908412, ClinGen CA4465514, ClinVar RCV003319708, ClinVar RCV003746674, REVEL 0.08, CADD 21.60, Uncertain significance, not provided; Hereditary cancer-predisposing syndrome; Tumor predisposition synd
- I22V (p.Ile22Val), rs375440229, ClinGen CA4465513, ClinVar RCV000504020, ClinVar RCV000541787, REVEL 0.07, CADD 0.31, Conflicting interpretations, Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8; Cer
- V23A (p.Val23Ala), rs2485562718, ClinGen CA369066135, ClinVar RCV002837712, ClinVar RCV005264281, REVEL 0.17, CADD 22.20, Uncertain significance, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- V23L (p.Val23Leu), gnomAD rs1457723321
- N24D (p.Asn24Asp), rs201796132, ClinGen CA4465512, ClinVar RCV001351690, ClinVar RCV002368155, REVEL 0.35, CADD 25.30, Uncertain significance, Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3
- N24K (p.Asn24Lys), rs774667836, ClinGen CA369066129, ClinVar RCV001359118, ExAC rs774667836, Uncertain significance, Tumor predisposition syndrome 3
- N24S (p.Asn24Ser), rs372235657, ClinGen CA4465511, ClinVar RCV000541107, ClinVar RCV001026145, REVEL 0.30, CADD 22.90, Uncertain significance, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome; not pr
- V25I (p.Val25Ile), rs375825837, ClinGen CA4465509, ClinVar RCV000555964, ClinVar RCV001026393, REVEL 0.04, CADD 20.30, Uncertain significance, Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3
- Y26C (p.Tyr26Cys), rs1197625483, ClinGen CA369066118, ClinVar RCV000532949, ClinVar RCV002413630, REVEL 0.43, CADD 23.10, Uncertain significance, Tumor predisposition syndrome 3; not specified; Hereditary cancer-predisposing s
- Y26H (p.Tyr26His), rs2116629689, ClinGen CA369066121, ClinVar RCV002046665, Ensembl rs2116629689, REVEL 0.51, CADD 26.70, Uncertain significance, Tumor predisposition syndrome 3
- G27R (p.Gly27Arg), rs1584791977, ClinGen CA369066113, ClinVar RCV001027036, ClinVar RCV001035723, REVEL 0.80, CADD 25.80, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3
- V29L (p.Val29Leu), rs2485562635, ClinGen CA369066102, ClinVar RCV002447989, Uncertain significance, Hereditary cancer-predisposing syndrome
- K30R (p.Lys30Arg), rs2485562611, ClinGen CA369066092, ClinVar RCV003746209, ClinVar RCV005468030, Uncertain significance, Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3
- K30T (p.Lys30Thr), rs2485562611, ClinGen CA369066093, ClinVar RCV003747358, Uncertain significance, Tumor predisposition syndrome 3
- F31C (p.Phe31Cys), rs1489113369, ClinGen CA369066080, NCI-TCGA Cosmic COSV6292, ClinVar RCV002371543, Uncertain significance, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- F31L (p.Phe31Leu), rs1584791969, ClinGen CA369066066, ClinVar RCV001372734, Ensembl rs1584791969, REVEL 0.35, CADD 24.20, Uncertain significance, Tumor predisposition syndrome 3
- F31S (p.Phe31Ser), rs1489113369, ClinGen CA369066078, ClinVar RCV002008034, TOPMed rs1489113369, REVEL 0.46, CADD 28.70, Uncertain significance, Tumor predisposition syndrome 3
- F31Y (p.Phe31Tyr), TOPMed rs1489113369, Uncertain significance, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- K33E (p.Lys33Glu), rs749815652, ClinGen CA4465508, ClinVar RCV001348846, ExAC rs749815652, REVEL 0.26, CADD 27.00, Uncertain significance, Tumor predisposition syndrome 3
- K33N (p.Lys33Asn), rs2116629621, Ensembl rs2116629621, ClinGen CA369066028, ClinVar RCV002383114, Uncertain significance, Hereditary cancer-predisposing syndrome
- K33R (p.Lys33Arg), NCI-TCGA Cosmic COSV1007, Variant assessed as somatic; moderate impact.
- K33T (p.Lys33Thr), rs2485562573, ClinGen CA369066038, ClinVar RCV002387439, Uncertain significance, Hereditary cancer-predisposing syndrome
- P34A (p.Pro34Ala), rs1221080304, ClinGen CA369066021, ClinVar RCV002441398, ClinVar RCV003102219, Uncertain significance, Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3
- P34L (p.Pro34Leu), rs1796390766, ClinGen CA369066016, NCI-TCGA Cosmic COSV6293, ClinVar RCV002268725, Uncertain significance, not specified; Tumor predisposition syndrome 3
- P34R (p.Pro34Arg), rs1796390766, ClinGen CA369066017, ClinVar RCV001207698, Ensembl rs1796390766, Uncertain significance, Tumor predisposition syndrome 3
- P34S (p.Pro34Ser), rs1221080304, ClinGen CA369066019, ClinVar RCV002441633, ClinVar RCV003314735, REVEL 0.22, CADD 23.80, Uncertain significance, not provided; Hereditary cancer-predisposing syndrome; Tumor predisposition synd
- P34T (p.Pro34Thr), rs1221080304, ClinGen CA369066024, ClinVar RCV003078370, REVEL 0.20, CADD 23.70, Uncertain significance, Tumor predisposition syndrome 3
- P35A (p.Pro35Ala), rs2116629585, ClinGen CA369066014, ClinVar RCV001366039, Ensembl rs2116629585, Uncertain significance, Tumor predisposition syndrome 3
- P35L (p.Pro35Leu), NCI-TCGA Cosmic COSV6293, REVEL 0.56, CADD 27.60, Conflicting interpretations, Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8; Tum
- P35Q (p.Pro35Gln), rs2485562531, ClinGen CA369066010, ClinVar RCV002401009, Uncertain significance, Hereditary cancer-predisposing syndrome
- Y36* (p.Tyr36Ter), rs2485562504, ClinGen CA369065998, ClinVar RCV002446212, Likely pathogenic
- Y36C (p.Tyr36Cys), rs1057524691, ClinGen CA16605029, ClinVar RCV000438630, ClinVar RCV000811957, REVEL 0.31, CADD 29.00, Uncertain significance, Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3; not pr
- L37I (p.Leu37Ile), rs2485562499, ClinGen CA369065997, ClinVar RCV003177015, REVEL 0.05, CADD 18.20, Uncertain significance, Hereditary cancer-predisposing syndrome
- S38C (p.Ser38Cys), rs2485562484, ClinGen CA369065987, ClinVar RCV002320461, Uncertain significance, Hereditary cancer-predisposing syndrome
- S38I (p.Ser38Ile), rs1796390486, ClinGen CA369065973, ClinVar RCV001769417, ClinVar RCV003339737, REVEL 0.40, CADD 26.70, Conflicting interpretations, not provided; Hereditary cancer-predisposing syndrome
- S38N (p.Ser38Asn), rs1796390486, ClinGen CA369065977, ClinVar RCV001067939, ClinVar RCV002451293, REVEL 0.21, CADD 25.60, Uncertain significance, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- S38R (p.Ser38Arg), rs1554434730, ClinGen CA369065971, ClinVar RCV000545016, ClinVar RCV001017481, REVEL 0.36, CADD 25.30, Uncertain significance, Tumor predisposition syndrome 3
- K39E (p.Lys39Glu), rs2485562462, ClinGen CA369065969, NCI-TCGA Cosmic COSV6292, ClinVar RCV002469708, REVEL 0.16, CADD 24.20, Uncertain significance, not provided; Tumor predisposition syndrome 3
- K39N (p.Lys39Asn), rs2485562452, ClinGen CA369065960, ClinVar RCV003861459, ClinVar RCV005468086, REVEL 0.17, CADD 26.90, Conflicting interpretations, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- K39R (p.Lys39Arg), rs2116629538, ClinGen CA369065965, ClinVar RCV001360284, ClinVar RCV003382552, Uncertain significance, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome; not pr
- G40* (p.Gly40Ter), rs1796390355, ClinGen CA369065951, NCI-TCGA Cosmic COSV6293, ClinVar RCV001993372, CADD 36.00, Pathogenic
- G40A (p.Gly40Ala), rs2116629512, ClinGen CA369065948, ClinVar RCV003177020, Uncertain significance, Hereditary cancer-predisposing syndrome
- G40E (p.Gly40Glu), rs2116629512, ClinGen CA369065949, NCI-TCGA Cosmic COSV6293, ClinVar RCV001368211, REVEL 0.70, CADD 26.20, Uncertain significance, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome; not sp
- G40R (p.Gly40Arg), TOPMed rs1796390355, Pathogenic
- G40V (p.Gly40Val), rs2116629512, ClinGen CA369065947, NCI-TCGA Cosmic COSV6293, ClinVar RCV002008222, Uncertain significance, Tumor predisposition syndrome 3
- T41=, NCI-TCGA TCGA novel, Variant assessed as somatic; low impact.
- T41A (p.Thr41Ala), rs2485562427, ClinGen CA369065945, ClinVar RCV003064908, ClinVar RCV004565673, REVEL 0.20, CADD 23.60, Uncertain significance, Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3
- T41I (p.Thr41Ile), rs1563008415, ClinGen CA369065938, ClinVar RCV000694392, Ensembl rs1563008415, Uncertain significance, Tumor predisposition syndrome 3
- T41S (p.Thr41Ser), Ensembl rs1563008415, NCI-TCGA TCGA novel, Uncertain significance, Hereditary cancer-predisposing syndrome
- D42E (p.Asp42Glu), rs1554429221, ClinGen CA369061740, ClinVar RCV000528860, ClinVar RCV002448787, REVEL 0.54, CADD 25.50, Pathogenic/Likely pathogenic, Long telomere syndrome; Tumor predisposition syndrome 3
- D42G (p.Asp42Gly), rs1562997283, ClinGen CA369061743, ClinVar RCV000689836, ClinVar RCV002424611, REVEL 0.84, CADD 32.00, Uncertain significance, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- D42N (p.Asp42Asn), rs1358511734, ClinGen CA369065929, ClinVar RCV001912012, gnomAD rs1358511734, REVEL 0.67, CADD 35.00, Uncertain significance, Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3
- D42Y (p.Asp42Tyr), rs1358511734, NCI-TCGA Cosmic COSV1007, gnomAD rs1358511734, Uncertain significance
- Y43* (p.Tyr43Ter), rs2485505371, ClinGen CA369061727, ClinVar RCV003585449, Pathogenic
- Y43C (p.Tyr43Cys), rs1584777861, ClinGen CA369061731, ClinVar RCV001010779, ClinVar RCV001351967, Uncertain significance, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- Y43S (p.Tyr43Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- C44F (p.Cys44Phe), rs1260027166, ClinGen CA369061718, ClinVar RCV001346231, ClinVar RCV005702541, REVEL 0.50, CADD 25.60, Uncertain significance, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- C44G (p.Cys44Gly), rs1795856016, ClinGen CA369061722, ClinVar RCV001059634, Ensembl rs1795856016, Uncertain significance, Tumor predisposition syndrome 3
- C44S (p.Cys44Ser), rs1795856016, ClinGen CA369061725, ClinVar RCV001874037, Ensembl rs1795856016, Uncertain significance, Tumor predisposition syndrome 3
- C44Y (p.Cys44Tyr), rs1260027166, ClinGen CA369061720, ClinVar RCV000652216, ClinVar RCV004025849, REVEL 0.53, CADD 25.70, Uncertain significance, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- S45P (p.Ser45Pro), rs774755861, ClinGen CA4465493, ClinVar RCV001231690, ClinVar RCV003328662, REVEL 0.32, CADD 24.50, Uncertain significance, Tumor predisposition syndrome 3; not provided
- V46A (p.Val46Ala), rs1795855729, ClinGen CA369061698, ClinVar RCV003747520, TOPMed rs1795855729, REVEL 0.12, CADD 25.80, Uncertain significance, Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3
- V46F (p.Val46Phe), rs2116567839, ClinGen CA369061702, ClinVar RCV002042789, ClinVar RCV004046009, Uncertain significance, Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3
- V46I (p.Val46Ile), rs2116567839, ClinGen CA369061705, ClinVar RCV003746342, ClinVar RCV006428102, Uncertain significance, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- V47A (p.Val47Ala), Ensembl rs896759546, Uncertain significance, Hereditary cancer-predisposing syndrome
- T48A (p.Thr48Ala), rs1298555006, ClinGen CA369061685, ClinVar RCV001893710, ClinVar RCV003382698, REVEL 0.15, CADD 25.60, Uncertain significance, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- T48I (p.Thr48Ile), rs1002823146, ClinGen CA166079928, ClinVar RCV001341955, ClinVar RCV002395745, REVEL 0.13, CADD 23.80, Uncertain significance, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- T48P (p.Thr48Pro), rs1298555006, ClinGen CA369061687, ClinVar RCV002392017, ClinVar RCV003095148, Uncertain significance, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- I49T (p.Ile49Thr), rs2485505269, ClinGen CA369061671, ClinVar RCV003037676, ClinVar RCV005098735, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Tumor predisposition synd
- I49V (p.Ile49Val), rs1345686360, ClinGen CA369061676, ClinVar RCV000805515, ClinVar RCV003322827, REVEL 0.04, CADD 22.60, Uncertain significance, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome; not pr
- V50L (p.Val50Leu), rs1688233518, ClinGen CA369061664, ClinVar RCV001902017, gnomAD rs1688233518, REVEL 0.12, CADD 23.20, Uncertain significance, Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3
- V50M (p.Val50Met), rs1688233518, ClinGen CA369061663, ClinVar RCV003338968, ClinVar RCV006472419, Uncertain significance, Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3
- D51E (p.Asp51Glu), Ensembl rs1795855015, Uncertain significance, Hereditary cancer-predisposing syndrome
- D51H (p.Asp51His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D51N (p.Asp51Asn), rs1562997249, ClinGen CA369061655, ClinVar RCV000689791, ClinVar RCV003994083, Conflicting interpretations, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- D51V (p.Asp51Val), gnomAD rs1305344800, REVEL 0.91, CADD 29.20
- Q52* (p.Gln52Ter), rs1416551470, ClinGen CA369061638, ClinVar RCV003746433, ClinVar RCV005468044, CADD 37.00, Pathogenic
- Q52K (p.Gln52Lys), TOPMed rs1416551470, REVEL 0.14, CADD 20.80, Pathogenic
- Q52R (p.Gln52Arg), rs1795854850, ClinGen CA369061636, ClinVar RCV001345029, Ensembl rs1795854850, Uncertain significance, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- T53A (p.Thr53Ala), NCI-TCGA Cosmic COSV6293, Variant assessed as somatic; moderate impact.
- T53I (p.Thr53Ile), rs2116567708, ClinGen CA16616742, ClinVar RCV002012454, Ensembl rs2116567708, Uncertain significance, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- T53K (p.Thr53Lys), rs2116567708, ClinGen CA369061622, ClinVar RCV004521843, REVEL 0.11, CADD 23.50, Uncertain significance, Hereditary cancer-predisposing syndrome
- N54D (p.Asn54Asp), rs1398488689, ClinGen CA369061619, ClinVar RCV001993548, ClinVar RCV002388955, REVEL 0.07, CADD 22.10, Conflicting interpretations, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- N54S (p.Asn54Ser), 1000Genomes rs561750523, ExAC rs561750523, gnomAD rs561750523, REVEL 0.15, CADD 23.10
- V55I (p.Val55Ile), rs2116567668, ClinGen CA369061607, ClinVar RCV001958017, ClinVar RCV003167423, REVEL 0.06, CADD 19.40, Uncertain significance, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- K56E (p.Lys56Glu), rs2116567663, ClinGen CA369061597, ClinVar RCV001892019, Ensembl rs2116567663, Uncertain significance, Tumor predisposition syndrome 3
- L57P (p.Leu57Pro), rs1584777819, ClinGen CA369061580, ClinVar RCV000802444, Ensembl rs1584777819, Uncertain significance, Tumor predisposition syndrome 3
- T58A (p.Thr58Ala), rs2485505097, ClinGen CA369061575, ClinVar RCV003296379, ClinVar RCV005102661, Uncertain significance, Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3
- T58I (p.Thr58Ile), rs1795854315, ClinGen CA369061568, ClinVar RCV001338669, Ensembl rs1795854315, Uncertain significance, not specified; Tumor predisposition syndrome 3; Hereditary cancer-predisposing s
- T58P (p.Thr58Pro), rs2485505097, ClinGen CA369061577, ClinVar RCV003747216, ClinVar RCV004943162, Uncertain significance, Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3
- C59* (p.Cys59Ter), rs2116567603, ClinGen CA369061558, ClinVar RCV002404044, Pathogenic
- C59F (p.Cys59Phe), rs763187597, ClinGen CA4465491, ClinVar RCV001047997, ExAC rs763187597, REVEL 0.49, CADD 25.10, Uncertain significance, Tumor predisposition syndrome 3
- C59G (p.Cys59Gly), rs1418472108, ClinGen CA369061563, ClinVar RCV001337435, ClinVar RCV002402924, REVEL 0.79, CADD 27.00, Uncertain significance, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- C59R (p.Cys59Arg), rs1418472108, ClinGen CA369061566, ClinVar RCV003584306, Uncertain significance, Tumor predisposition syndrome 3
- C59S (p.Cys59Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- C59Y (p.Cys59Tyr), rs763187597, ClinGen CA369061559, ClinVar RCV001352525, ClinVar RCV002413837, Uncertain significance, not provided; Tumor predisposition syndrome 3; Hereditary cancer-predisposing sy
- L60R (p.Leu60Arg), rs1584777805, ClinGen CA369061549, ClinVar RCV001013220, Ensembl rs1584777805, Uncertain significance, Hereditary cancer-predisposing syndrome
- L61E (p.Leu61Glu), rs1584777802, ClinGen CA915945507, ClinVar RCV001013207, Ensembl rs1584777802, Pathogenic
- L61F (p.Leu61Phe), rs1795853989, ClinGen CA369061540, ClinVar RCV001202199, ClinVar RCV004033528, REVEL 0.11, CADD 19.80, Uncertain significance, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- L61P (p.Leu61Pro), rs1795853859, ClinGen CA369061537, ClinVar RCV001295308, ClinVar RCV004035640, Uncertain significance, Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3
- F62C (p.Phe62Cys), rs1795853782, ClinGen CA369061526, ClinVar RCV003386977, gnomAD rs1795853782, REVEL 0.85, CADD 27.80, Uncertain significance, Hereditary cancer-predisposing syndrome
- F62L (p.Phe62Leu), NCI-TCGA Cosmic COSV1007, REVEL 0.76, CADD 26.40, Variant assessed as somatic; moderate impact.
- S63G (p.Ser63Gly), rs2485505016, ClinGen CA369061519, ClinVar RCV004521849, Uncertain significance, Hereditary cancer-predisposing syndrome
- S63I (p.Ser63Ile), rs1584777788, ClinGen CA369061513, ClinVar RCV001351541, ClinVar RCV004945053, Uncertain significance, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- S63N (p.Ser63Asn), TOPMed rs1584777788, REVEL 0.09, CADD 18.20, Uncertain significance
- S63R (p.Ser63Arg), rs2485505016, ClinGen CA369061521, ClinVar RCV004521848, REVEL 0.38, CADD 23.80, Uncertain significance, Hereditary cancer-predisposing syndrome
- S63T (p.Ser63Thr), rs1584777788, ClinGen CA369061514, ClinVar RCV000808836, ClinVar RCV003166277, Uncertain significance, not provided; Tumor predisposition syndrome 3; Hereditary cancer-predisposing sy
- G64A (p.Gly64Ala), NCI-TCGA Cosmic COSV6292, Variant assessed as somatic; moderate impact.
- G64E (p.Gly64Glu), rs2485504992, ClinGen CA369061502, ClinVar RCV002410676, ClinVar RCV004765505, REVEL 0.15, CADD 17.90, Uncertain significance, Tumor predisposition syndrome 3; not provided; Hereditary cancer-predisposing sy
- N65K (p.Asn65Lys), rs1584777781, ClinGen CA369061487, ClinVar RCV001013848, Ensembl rs1584777781, Uncertain significance, Hereditary cancer-predisposing syndrome
- Y66C (p.Tyr66Cys), rs776085350, ClinGen CA4465490, ClinVar RCV000534227, ClinVar RCV002420519, REVEL 0.12, CADD 22.30, Conflicting interpretations, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- E67K (p.Glu67Lys), TOPMed rs1795853230
- E67Q (p.Glu67Gln), TOPMed rs1795853230
- A68G (p.Ala68Gly), Ensembl rs1795853028
- A68T (p.Ala68Thr), rs200145895, ClinGen CA4465488, ClinVar RCV003310124, ClinVar RCV006630935, REVEL 0.11, CADD 14.10, Uncertain significance, Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3
- L69F (p.Leu69Phe), rs905571705, ClinGen CA166079887, ClinVar RCV000549161, ClinVar RCV003159929, REVEL 0.48, CADD 24.10, Uncertain significance, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- P70A (p.Pro70Ala), rs1795852882, ClinGen CA369061438, ClinVar RCV002304777, Uncertain significance, Tumor predisposition syndrome 3
- P70S (p.Pro70Ser), rs1795852882, ClinGen CA369061440, ClinVar RCV002424019, ClinVar RCV003098607, Uncertain significance, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- I71T (p.Ile71Thr), rs2485504899, ClinGen CA2580076455, ClinVar RCV003043760, Uncertain significance, Tumor predisposition syndrome 3
- I71V (p.Ile71Val), rs776844142, ClinGen CA4465487, ClinVar RCV000527546, ClinVar RCV000565840, REVEL 0.04, CADD 15.70, Conflicting interpretations, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- I72V (p.Ile72Val), rs1220705976, ClinGen CA369061419, ClinVar RCV003310125, TOPMed rs1220705976, REVEL 0.04, CADD 19.80, Uncertain significance, Hereditary cancer-predisposing syndrome
- Y73D (p.Tyr73Asp), TOPMed rs1795852560
- Y73H (p.Tyr73His), rs1795852560, ClinGen CA369061405, ClinVar RCV003747347, ClinVar RCV004943175, Uncertain significance, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- K74* (p.Lys74Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- K74E (p.Lys74Glu), rs2485504802, ClinGen CA369061392, ClinVar RCV003585496, ClinVar RCV005467978, Uncertain significance, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- K74I (p.Lys74Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- N75H (p.Asn75His), rs2485504776, ClinGen CA369061382, ClinVar RCV003171442, ClinVar RCV003746660, Uncertain significance, Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3
- N75M (p.Asn75Met), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- N75S (p.Asn75Ser), rs1044174795, ClinGen CA166079848, ClinVar RCV000537871, ClinVar RCV001014921, REVEL 0.05, CADD 19.00, Uncertain significance, Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome; not pr
- G76E (p.Gly76Glu), NCI-TCGA Cosmic COSV6293, Ensembl rs2116567327, Variant assessed as somatic; moderate impact.
- G76R (p.Gly76Arg), rs1584777738, ClinGen CA369061374, ClinVar RCV001014998, Ensembl rs1584777738, Uncertain significance, Hereditary cancer-predisposing syndrome
- G76V (p.Gly76Val), NCI-TCGA Cosmic COSV6293, REVEL 0.60, CADD 32.00, Variant assessed as somatic; moderate impact.
- D77G (p.Asp77Gly), rs1795852217, ClinGen CA369061357, ClinVar RCV001221500, ClinVar RCV003163703, Uncertain significance, Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3; not pr
- D77H (p.Asp77His), rs1795852296, ClinGen CA369061362, ClinVar RCV003030395, Uncertain significance, Tumor predisposition syndrome 3
- D77N (p.Asp77Asn), NCI-TCGA Cosmic COSV6293, Variant assessed as somatic; moderate impact.
- D77Y (p.Asp77Tyr), rs1795852296, ClinGen CA369061361, ClinVar RCV001326157, Ensembl rs1795852296, Uncertain significance, Tumor predisposition syndrome 3
Public POT1 analysis runs
- POT1 analysis run — POT1 (1,567 variants) — completed 2026-08-19