MRE11 (P49959) variants and mutations
MRE11 (also known as P49959) is a human protein-coding gene encoding a double-strand break repair protein. It detects and processes DNA double-strand breaks within the MRE11-RAD50-NBN complex and helps activate ATM-dependent checkpoints. Biallelic hypomorphic variants can cause ataxia-telangiectasia-like disorder with chromosome instability and progressive neurologic disease. This analysis covers 1,657 MRE11 variants and mutations. Of these, 72% have computational variant effect predictions. Disease context includes ataxia-telangiectasia-like disorder, hereditary neoplastic syndrome, and Inherited cancer-predisposing syndrome. Example MRE11 variants include M1I, M1V, and S2G.
Variant analysis overview
- Gene: MRE11
- Protein: P49959
- UniProt accession: P49959
- Organism: Homo sapiens
- Variants analyzed: 1657
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 1,517 unspecified-consequence records; 9 frameshift variants; 1 stop retained variant; 55 synonymous variants; 58 missense variants; 6 in-frame deletions; 1 in-frame insertions; 1 stop-gained variants; 4 splice-region variants; 4 substitution
- Prediction scores: 1,193 variants have prediction scores (72% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: ataxia-telangiectasia-like disorder, hereditary neoplastic syndrome, Inherited cancer-predisposing syndrome, cancer, Hereditary breast and ovarian cancer syndrome, hereditary breast ovarian cancer syndrome, breast carcinoma, Nijmegen breakage syndrome-like disorder, colonic neoplasm, triple-negative breast carcinoma, Renal transitional cell carcinoma, ovarian cancer.
Protein structure and variant hotspots
- Protein features: 8 binding sites; 21 post-translational modification sites.
- PTM context: 51 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 MRE11 variants
Examples include M1I, M1V, S2G, S2R, S2T, T3A, T3I, A4S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs1555018818, ClinGen CA382381620, ClinVar RCV000563007, MetaLR 0.32, MetaSVM -0.51, Likely pathogenic, Hereditary cancer-predisposing syndrome
- M1V (p.Met1Val), rs746846327, ClinGen CA6235520, ClinVar RCV003593141, MetaLR 0.29, MetaSVM -0.49, Uncertain significance, Ataxia-telangiectasia-like disorder
- S2G (p.Ser2Gly), Ensembl rs1947323316, REVEL 0.16, CADD 23.00
- S2R (p.Ser2Arg), rs777751367, ClinGen CA336979, ClinVar RCV001303166, ExAC rs777751367, REVEL 0.22, CADD 20.60, Uncertain significance, Ataxia-telangiectasia-like disorder
- S2T (p.Ser2Thr), rs1487843687, ClinGen CA382381609, ClinVar RCV000563074, gnomAD rs1487843687, REVEL 0.12, CADD 16.10, Uncertain significance, Hereditary cancer-predisposing syndrome
- T3A (p.Thr3Ala), rs876658926, ClinGen CA10579429, ClinVar RCV000216593, ClinVar RCV001299121, REVEL 0.13, CADD 10.70, Uncertain significance, Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia-like disorder
- T3I (p.Thr3Ile), rs1461466405, ClinGen CA382381594, ClinVar RCV002460854, TOPMed rs1461466405, REVEL 0.14, CADD 20.90, Uncertain significance, Hereditary cancer-predisposing syndrome
- A4S (p.Ala4Ser), NCI-TCGA Cosmic COSV1001, cosmic curated COSV10012, Variant assessed as somatic; moderate impact.
- D5N (p.Asp5Asn), rs1947322463, ClinGen CA382381575, ClinVar RCV002889671, REVEL 0.14, CADD 13.40, Uncertain significance, Ataxia-telangiectasia-like disorder
- D5Y (p.Asp5Tyr), Ensembl rs1947322463
- A6G (p.Ala6Gly), rs2496667409, ClinGen CA382381550, ClinVar RCV003182395, Uncertain significance, Hereditary cancer-predisposing syndrome
- A6P (p.Ala6Pro), rs1060501784, ClinGen CA382381558, ClinVar RCV002233071, ClinVar RCV002461946, REVEL 0.15, CADD 12.90, Uncertain significance, Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia-like disorder
- A6S (p.Ala6Ser), rs1060501784, ClinGen CA382381557, ClinVar RCV002461427, REVEL 0.15, CADD 6.96, Uncertain significance, Hereditary cancer-predisposing syndrome
- A6T (p.Ala6Thr), rs1060501784, ClinGen CA16613710, cosmic curated COSV10012, ClinVar RCV000462838, REVEL 0.17, CADD 7.64, Conflicting interpretations, Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome
- A6V (p.Ala6Val), rs2496667409, ClinGen CA382381549, ClinVar RCV003358263, Uncertain significance, Hereditary cancer-predisposing syndrome
- L7F (p.Leu7Phe), rs73517551, ClinGen CA333186, ClinVar RCV000129361, ClinVar RCV000524527, REVEL 0.21, CADD 21.00, Conflicting interpretations, Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome; no
- L7P (p.Leu7Pro), TOPMed rs1947321734, REVEL 0.20, CADD 18.20
- L7V (p.Leu7Val), rs73517551, ClinGen CA6235517, ClinVar RCV000568582, ClinVar RCV001110005, REVEL 0.21, CADD 18.70, Uncertain significance, Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia-like disorder 1
- D8E (p.Asp8Glu), rs1591726899, ClinGen CA382381172, ClinVar RCV001015730, Ensembl rs1591726899, AlphaMissense 0.11, MetaLR 0.30, Uncertain significance, Hereditary cancer-predisposing syndrome
- D8N (p.Asp8Asn), rs1244361719, ClinGen CA382381181, ClinVar RCV003106483, ClinVar RCV003368041, REVEL 0.28, CADD 25.20, Uncertain significance, Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome
- D8V (p.Asp8Val), rs1591726907, ClinGen CA382381175, ClinVar RCV001015410, Ensembl rs1591726907, AlphaMissense 0.12, MetaLR 0.62, Uncertain significance, Hereditary cancer-predisposing syndrome
- E10K (p.Glu10Lys), rs756308200, ClinGen CA6235471, ClinVar RCV000215459, ClinVar RCV000809391, REVEL 0.59, CADD 23.20, Uncertain significance, Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia-like disorder
- N11K (p.Asn11Lys), rs746088302, ClinGen CA10579427, ClinVar RCV000222620, ClinVar RCV002229573, REVEL 0.43, CADD 23.20, Uncertain significance, Hereditary cancer-predisposing syndrome
- N11S (p.Asn11Ser), rs1555018337, ClinGen CA382381133, ClinVar RCV002233072, ClinVar RCV004944042, REVEL 0.29, CADD 23.20, Uncertain significance, Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia-like disorder
- T12A (p.Thr12Ala), rs2496653973, ClinGen CA382381126, ClinVar RCV003591579, Uncertain significance, Ataxia-telangiectasia-like disorder
- T12I (p.Thr12Ile), rs1947268667, ClinGen CA382381122, ClinVar RCV002461520, ClinVar RCV003591967, REVEL 0.65, CADD 23.00, Uncertain significance, Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome
- F13C (p.Phe13Cys), rs1188101971, ClinGen CA382381096, ClinVar RCV001021394, ClinVar RCV001050660, REVEL 0.92, CADD 29.60, Uncertain significance, Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome
- F13I (p.Phe13Ile), rs149101834, ClinGen CA333197, ClinVar RCV000129638, ClinVar RCV000524531, REVEL 0.58, CADD 23.10, Benign/Likely benign, Ataxia-telangiectasia-like disorder; not specified; Hereditary cancer-predisposi
- F13L (p.Phe13Leu), rs751978914, ClinGen CA6235468, ClinVar RCV001021618, ExAC rs751978914, REVEL 0.50, CADD 22.30, Uncertain significance, Hereditary cancer-predisposing syndrome
- I15L (p.Ile15Leu), NCI-TCGA Cosmic COSV6057, cosmic curated COSV60575, Variant assessed as somatic; moderate impact.
- I15M (p.Ile15Met), rs786201764, ClinGen CA190375, ClinVar RCV000164221, Ensembl rs786201764, REVEL 0.77, CADD 23.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- I15T (p.Ile15Thr), rs758942894, ClinGen CA6235466, ClinVar RCV000690458, ClinVar RCV001022595, REVEL 0.96, CADD 26.20, Uncertain significance, Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia-like disorder
- I15V (p.Ile15Val), rs778229721, ClinGen CA6235467, ClinVar RCV002460670, ExAC rs778229721, AlphaMissense 0.13, MetaLR 0.56, Uncertain significance, Hereditary cancer-predisposing syndrome
- L16* (p.Leu16Ter), rs2496653723, ClinGen CA382381052, ClinVar RCV002461453, CADD 28.40, Likely pathogenic
- L16F (p.Leu16Phe), rs1591726832, ClinGen CA382381045, ClinVar RCV001023226, gnomAD rs1591726832, REVEL 0.81, CADD 22.90, Uncertain significance, Hereditary cancer-predisposing syndrome
- V17I (p.Val17Ile), rs1060501790, ClinGen CA382381043, ClinVar RCV002233070, TOPMed rs1060501790, AlphaMissense 0.27, MetaLR 0.39, Uncertain significance, Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome
- V17L (p.Val17Leu), rs1060501790, ClinGen CA16613466, ClinVar RCV002230785, TOPMed rs1060501790, AlphaMissense 0.27, MetaLR 0.39, Uncertain significance, Ataxia-telangiectasia-like disorder
- A18T (p.Ala18Thr), rs2496653682, ClinGen CA382381028, ClinVar RCV002463342, Uncertain significance, Hereditary cancer-predisposing syndrome
- T19A (p.Thr19Ala), rs876660949, ClinGen CA10579425, cosmic curated COSV60577, ClinVar RCV000213862, AlphaMissense 0.64, MetaLR 0.53, Uncertain significance, Hereditary cancer-predisposing syndrome
- T19R (p.Thr19Arg), rs1162254673, ClinGen CA382381002, ClinVar RCV003757415, gnomAD rs1162254673, REVEL 0.95, CADD 26.40, Uncertain significance, Ataxia-telangiectasia-like disorder
- D20G (p.Asp20Gly), rs1565242083, ClinGen CA382380988, ClinVar RCV002462125, ClinVar RCV003227855, AlphaMissense 0.99, MetaLR 1.00, Uncertain significance, Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia-like disorder; no
- D20Y (p.Asp20Tyr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- I21M (p.Ile21Met), Ensembl rs1360688847
- I21T (p.Ile21Thr), rs1475558133, ClinGen CA382380969, ClinVar RCV000823893, ClinVar RCV004639385, REVEL 0.44, CADD 22.40, Uncertain significance, Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome
- I21V (p.Ile21Val), rs2496653540, ClinGen CA382380977, ClinVar RCV002460417, REVEL 0.28, CADD 16.60, Uncertain significance, Hereditary cancer-predisposing syndrome
- H22Y (p.His22Tyr), rs753346527, ClinGen CA198437, cosmic curated COSV60580, ClinVar RCV000167489, REVEL 0.98, CADD 27.10, Uncertain significance, Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome
- L23P (p.Leu23Pro), gnomAD rs1190829683, REVEL 0.94, AlphaMissense 0.98, Uncertain significance, Hereditary cancer-predisposing syndrome
- L23R (p.Leu23Arg), rs1190829683, ClinGen CA382380928, ClinVar RCV001025786, gnomAD rs1190829683, AlphaMissense 0.98, MetaLR 0.84, Uncertain significance, Hereditary cancer-predisposing syndrome
- L23V (p.Leu23Val), rs1591726771, ClinGen CA382380944, ClinVar RCV001025666, Ensembl rs1591726771, AlphaMissense 0.16, MetaLR 0.65, Uncertain significance, Hereditary cancer-predisposing syndrome
- G24A (p.Gly24Ala), rs2496653425, ClinGen CA382380918, ClinVar RCV003293372, Uncertain significance, Hereditary cancer-predisposing syndrome
- G24R (p.Gly24Arg), rs2496653443, ClinGen CA382380927, ClinVar RCV002460502, Uncertain significance, Hereditary cancer-predisposing syndrome
- F25C (p.Phe25Cys), rs1947266764, ClinGen CA382380902, ClinVar RCV001212962, ClinVar RCV003163620, AlphaMissense 0.11, MetaLR 0.17, Uncertain significance, Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia-like disorder
- F25L (p.Phe25Leu), rs145218439, ClinGen CA226544661, cosmic curated COSV10590, ClinVar RCV000567785, REVEL 0.69, CADD 24.50, Uncertain significance, Ataxia-telangiectasia-like disorder 1; Ataxia-telangiectasia-like disorder; Here
- F25Y (p.Phe25Tyr), rs1947266764, ClinGen CA382380906, ClinVar RCV002239164, Ensembl rs1947266764, REVEL 0.25, AlphaMissense 0.11, Uncertain significance, Ataxia-telangiectasia-like disorder
- M26L (p.Met26Leu), rs765822583, ClinGen CA6235465, cosmic curated COSV10740, ClinVar RCV004521555, REVEL 0.30, AlphaMissense 0.08, Uncertain significance, Hereditary cancer-predisposing syndrome
- M26T (p.Met26Thr), rs372068015, ClinGen CA299295, cosmic curated COSV10610, ClinVar RCV000160576, REVEL 0.49, CADD 23.40, Conflicting interpretations, Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome; no
- M26V (p.Met26Val), rs765822583, ClinGen CA382380894, ClinVar RCV000708713, ExAC rs765822583, AlphaMissense 0.08, MetaLR 0.22, Uncertain significance, Hereditary cancer-predisposing syndrome
- K28N (p.Lys28Asn), rs2496653260, ClinGen CA382380815, ClinVar RCV004521559, Uncertain significance, Hereditary cancer-predisposing syndrome
- K28T (p.Lys28Thr), rs876658611, ClinGen CA10579424, ClinVar RCV000219989, ClinVar RCV002472970, REVEL 0.84, CADD 26.60, Uncertain significance, not provided; Hereditary cancer-predisposing syndrome
- D29N (p.Asp29Asn), ExAC rs767339843, gnomAD rs767339843
- D29V (p.Asp29Val), rs1209434347, ClinGen CA382380805, ClinVar RCV004521560, gnomAD rs1209434347, REVEL 0.90, CADD 27.30, Uncertain significance, Hereditary cancer-predisposing syndrome
- D29Y (p.Asp29Tyr), ExAC rs767339843, gnomAD rs767339843, REVEL 0.86, CADD 26.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- A30G (p.Ala30Gly), rs2135141215, ClinGen CA382380793, ClinVar RCV002460804, AlphaMissense 0.17, MetaLR 0.46, Uncertain significance, Hereditary cancer-predisposing syndrome
- A30L (p.Ala30Leu), rs1591726665, ClinGen CA915948384, ClinVar RCV001018368, Ensembl rs1591726665, Uncertain significance, Hereditary cancer-predisposing syndrome
- A30P (p.Ala30Pro), Ensembl rs2135141229
- A30S (p.Ala30Ser), rs2135141229, ClinGen CA382380797, ClinVar RCV003176278, AlphaMissense 0.15, MetaLR 0.20, Uncertain significance, Hereditary cancer-predisposing syndrome
- A30V (p.Ala30Val), Ensembl rs2135141215, REVEL 0.46, AlphaMissense 0.17
- V31A (p.Val31Ala), Ensembl rs1061945, Uncertain significance, Hereditary cancer-predisposing syndrome
- V31E (p.Val31Glu), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- V31I (p.Val31Ile), NCI-TCGA Cosmic COSV1001, cosmic curated COSV10011, Variant assessed as somatic; moderate impact.
- R32G (p.Arg32Gly), rs587782266, ClinGen CA167536, ClinVar RCV000131000, Ensembl rs587782266, AlphaMissense 0.98, MetaLR 0.74, Uncertain significance, Hereditary cancer-predisposing syndrome
- R32K (p.Arg32Lys), rs2496653045, ClinGen CA382380780, ClinVar RCV002846825, NCI-TCGA TCGA novel, Uncertain significance, Ataxia-telangiectasia-like disorder
- G33E (p.Gly33Glu), rs761681478, ClinGen CA6235463, ClinVar RCV000215660, ClinVar RCV002229301, REVEL 0.80, CADD 24.80, Uncertain significance, Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia-like disorder
- G33K (p.Gly33Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- G33R (p.Gly33Arg), rs2496653021, ClinGen CA382380772, ClinVar RCV002460410, REVEL 0.81, CADD 25.30, Uncertain significance, Hereditary cancer-predisposing syndrome
- N34Y (p.Asn34Tyr), rs1947265904, ClinGen CA382380765, ClinVar RCV001341992, Ensembl rs1947265904, AlphaMissense 0.16, MetaLR 0.70, Uncertain significance, Ataxia-telangiectasia-like disorder
- D35N (p.Asp35Asn), rs1591726630, ClinGen CA382380753, ClinVar RCV001009769, ClinVar RCV002236073, AlphaMissense 0.97, MetaLR 0.72, Uncertain significance, Hereditary cancer-predisposing syndrome
- D35Y (p.Asp35Tyr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T36A (p.Thr36Ala), rs774330292, ClinGen CA192942, ClinVar RCV000165274, ClinVar RCV000687085, REVEL 0.34, CADD 23.00, Uncertain significance, Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome; no
- T36K (p.Thr36Lys), ExAC rs768676557, TOPMed rs768676557, gnomAD rs768676557, Uncertain significance
- T36M (p.Thr36Met), rs768676557, ClinGen CA192154, cosmic curated COSV60577, ClinVar RCV000164951, REVEL 0.75, CADD 26.10, Uncertain significance, Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome
- F37I (p.Phe37Ile), Ensembl rs781084066, REVEL 0.64, CADD 22.60
- V38I (p.Val38Ile), TOPMed rs786202896, gnomAD rs786202896, REVEL 0.13, CADD 18.60, Uncertain significance, Hereditary cancer-predisposing syndrome
- V38L (p.Val38Leu), rs786202896, ClinGen CA382380718, ClinVar RCV001364197, TOPMed rs786202896, REVEL 0.15, CADD 19.20, Uncertain significance, Ataxia-telangiectasia-like disorder
- T39I (p.Thr39Ile), rs2496652838, ClinGen CA382380701, ClinVar RCV002461442, REVEL 0.91, CADD 25.80, Uncertain significance, Hereditary cancer-predisposing syndrome
- L40F (p.Leu40Phe), rs1947265336, ClinGen CA382380697, ClinVar RCV001327728, ClinVar RCV003294313, REVEL 0.26, AlphaMissense 0.07, Conflicting interpretations, Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome
- L40I (p.Leu40Ile), rs1947265336, ClinGen CA382380700, ClinVar RCV003164973, AlphaMissense 0.07, MetaLR 0.20, Uncertain significance, Hereditary cancer-predisposing syndrome
- D41E (p.Asp41Glu), rs1398118094, ClinGen CA382380678, ClinVar RCV001010518, ClinVar RCV001292974, REVEL 0.26, CADD 16.90, Uncertain significance, Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome; At
- D41H (p.Asp41His), rs116679717, ClinGen CA10579423, ClinVar RCV000219364, ClinVar RCV001298208, REVEL 0.60, CADD 18.10, Uncertain significance, Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome; At
- D41N (p.Asp41Asn), rs116679717, ClinGen CA331830, cosmic curated COSV60580, ClinVar RCV000115904, REVEL 0.25, CADD 12.60, Benign/Likely benign, Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome; no
- D41Y (p.Asp41Tyr), 1000Genomes rs116679717, ESP rs116679717, ExAC rs116679717, TOPMed rs116679717, Benign
- L44F (p.Leu44Phe), Ensembl rs2135140923, REVEL 0.60, CADD 24.30
- L44V (p.Leu44Val), NCI-TCGA Cosmic COSV6057, cosmic curated COSV60573, Variant assessed as somatic; moderate impact.
- R45T (p.Arg45Thr), Ensembl rs2135140901
- L46P (p.Leu46Pro), rs2496652549, ClinGen CA382380620, ClinVar RCV002461505, Uncertain significance, Hereditary cancer-predisposing syndrome
- L46V (p.Leu46Val), gnomAD rs1947264400, REVEL 0.28, CADD 22.00
- A47S (p.Ala47Ser), rs1428826563, ClinGen CA382380613, cosmic curated COSV60577, ClinVar RCV000561468, REVEL 0.86, CADD 25.30, Uncertain significance, Hereditary cancer-predisposing syndrome
- A47V (p.Ala47Val), rs730880378, ClinGen CA185954, ClinVar RCV000157663, ClinVar RCV001011397, REVEL 0.95, CADD 27.80, Uncertain significance, Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome; no
- Q48H (p.Gln48His), NCI-TCGA TCGA novel, Ensembl rs2135140846, Variant assessed as somatic; moderate impact.
- Q48R (p.Gln48Arg), rs2496652464, ClinGen CA2739270761, ClinVar RCV003757577, REVEL 0.19, CADD 20.90, Uncertain significance, Hereditary cancer-predisposing syndrome
- E49K (p.Glu49Lys), rs2496652386, ClinGen CA382380589, ClinVar RCV003176279, Uncertain significance, Hereditary cancer-predisposing syndrome
- N50K (p.Asn50Lys), rs1591726493, ClinGen CA382380570, ClinVar RCV003368266, Uncertain significance, Hereditary cancer-predisposing syndrome
- N50S (p.Asn50Ser), rs746023147, ClinGen CA382380574, ClinVar RCV000563215, ExAC rs746023147, AlphaMissense 0.10, MetaLR 0.41, Uncertain significance, Hereditary cancer-predisposing syndrome
- N50T (p.Asn50Thr), rs746023147, ClinGen CA6235461, ClinVar RCV002962814, ClinVar RCV004068303, REVEL 0.43, AlphaMissense 0.10, Uncertain significance, Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome
- E51G (p.Glu51Gly), rs1591726479, ClinGen CA382380560, ClinVar RCV001012028, ClinVar RCV002236091, REVEL 0.38, CADD 28.30, Uncertain significance, Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia-like disorder
- E51K (p.Glu51Lys), NCI-TCGA Cosmic COSV6058, cosmic curated COSV60580, Variant assessed as somatic; moderate impact.
- V52L (p.Val52Leu), rs2135123207, ClinGen CA382380005, ClinVar RCV001372890, Ensembl rs2135123207, AlphaMissense 0.91, MetaLR 0.80, Uncertain significance, Ataxia-telangiectasia-like disorder
- D53G (p.Asp53Gly), rs1591719448, ClinGen CA382379989, cosmic curated COSV60574, ClinVar RCV001012204, AlphaMissense 0.94, MetaLR 0.90, Uncertain significance, Hereditary cancer-predisposing syndrome
- D53H (p.Asp53His), rs2496621779, ClinGen CA382379997, ClinVar RCV002460728, Uncertain significance, Hereditary cancer-predisposing syndrome
- D53N (p.Asp53Asn), rs2496621779, ClinGen CA382380000, NCI-TCGA Cosmic COSV6057, ClinVar RCV002463272, Uncertain significance, Hereditary cancer-predisposing syndrome
- D53Y (p.Asp53Tyr), NCI-TCGA Cosmic COSV6057, cosmic curated COSV60576, Variant assessed as somatic; moderate impact.
- F54L (p.Phe54Leu), rs2496621705, ClinGen CA382379979, ClinVar RCV002460621, Uncertain significance, Hereditary cancer-predisposing syndrome
- I55L (p.Ile55Leu), rs2496621679, ClinGen CA382379962, ClinVar RCV002460711, Uncertain significance, Hereditary cancer-predisposing syndrome
- L56F (p.Leu56Phe), gnomAD rs863224896, REVEL 0.90, CADD 23.70, Uncertain significance, Hereditary cancer-predisposing syndrome
- L57* (p.Leu57Ter), rs951805101, ClinGen CA16040414, ClinVar RCV000566920, ClinVar RCV002526785, CADD 37.00, Pathogenic
- L57S (p.Leu57Ser), rs951805101, ClinGen CA382379916, ClinVar RCV002460681, TOPMed rs951805101, REVEL 0.95, CADD 28.90, Uncertain significance, Hereditary cancer-predisposing syndrome
- G58A (p.Gly58Ala), rs1482890077, ClinGen CA382379901, ClinVar RCV002239159, TOPMed rs1482890077, REVEL 0.83, CADD 25.20, Uncertain significance, Ataxia-telangiectasia-like disorder
- G58D (p.Gly58Asp), rs1482890077, ClinGen CA382379902, cosmic curated COSV10011, ClinVar RCV002239160, REVEL 0.94, CADD 26.20, Uncertain significance, Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome
- G58S (p.Gly58Ser), rs2496621558, ClinGen CA382379903, ClinVar RCV002460725, ClinVar RCV003757238, Uncertain significance, Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome
- G58V (p.Gly58Val), TOPMed rs1482890077, gnomAD rs1482890077, REVEL 0.93, CADD 26.00, Uncertain significance
- G59A (p.Gly59Ala), Ensembl rs2135123093
- G59R (p.Gly59Arg), rs2496621380, ClinGen CA382379894, ClinVar RCV003757313, REVEL 0.98, CADD 25.10, Uncertain significance, Ataxia-telangiectasia-like disorder
- D60E (p.Asp60Glu), rs1213393080, ClinGen CA382379867, ClinVar RCV004521533, Uncertain significance, Hereditary cancer-predisposing syndrome
- D60G (p.Asp60Gly), rs2496621302, ClinGen CA382379873, ClinVar RCV003302107, Uncertain significance, Hereditary cancer-predisposing syndrome
- L61I (p.Leu61Ile), rs786203268, ClinGen CA382379859, ClinVar RCV002460413, AlphaMissense 0.22, MetaLR 0.81, Uncertain significance, Hereditary cancer-predisposing syndrome
- L61P (p.Leu61Pro), Ensembl rs2135123031
- L61V (p.Leu61Val), rs786203268, ClinGen CA196037, ClinVar RCV000166500, ClinVar RCV001294988, REVEL 0.79, AlphaMissense 0.22, Uncertain significance, Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome
- F62S (p.Phe62Ser), rs2496621210, ClinGen CA382379833, ClinVar RCV002461512, REVEL 0.94, CADD 29.70, Uncertain significance, Hereditary cancer-predisposing syndrome
- H63N (p.His63Asn), rs2135122992, ClinGen CA382379821, ClinVar RCV002460412, AlphaMissense 0.98, MetaLR 0.81, Uncertain significance, Hereditary cancer-predisposing syndrome
- H63P (p.His63Pro), rs786203584, ClinGen CA382379816, ClinVar RCV000567751, Ensembl rs786203584, AlphaMissense 0.99, MetaLR 0.77, Uncertain significance, Hereditary cancer-predisposing syndrome
- H63R (p.His63Arg), rs786203584, ClinGen CA197145, ClinVar RCV000166963, Ensembl rs786203584, AlphaMissense 0.99, MetaLR 0.77, Uncertain significance, Hereditary cancer-predisposing syndrome
- H63Y (p.His63Tyr), rs2135122992, ClinGen CA382379817, cosmic curated COSV60581, ClinVar RCV001359999, AlphaMissense 0.98, MetaLR 0.81, Uncertain significance, Ataxia-telangiectasia-like disorder
- E64K (p.Glu64Lys), rs1947135431, ClinGen CA382379810, ClinVar RCV001225510, ClinVar RCV002462845, REVEL 0.56, CADD 27.40, Uncertain significance, Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome
- N65D (p.Asn65Asp), rs1947135355, ClinGen CA382379791, ClinVar RCV001249418, ClinVar RCV004944955, AlphaMissense 0.99, MetaLR 0.82, Uncertain significance, Hereditary cancer-predisposing syndrome
- N65Y (p.Asn65Tyr), rs1947135355, ClinGen CA382379788, ClinVar RCV003191666, AlphaMissense 0.99, MetaLR 0.82, Uncertain significance, Hereditary cancer-predisposing syndrome
- K66N (p.Lys66Asn), rs1947135192, ClinGen CA382379761, ClinVar RCV002460414, Uncertain significance, Hereditary cancer-predisposing syndrome
- K66R (p.Lys66Arg), NCI-TCGA Cosmic COSV1001, cosmic curated COSV10011, Variant assessed as somatic; moderate impact.
- P67L (p.Pro67Leu), rs1224848519, ClinGen CA382379742, ClinVar RCV002460583, gnomAD rs1224848519, REVEL 0.89, CADD 28.50, Uncertain significance, Hereditary cancer-predisposing syndrome
- P67S (p.Pro67Ser), rs2135122903, ClinGen CA382379755, cosmic curated COSV60574, ClinVar RCV002239673, REVEL 0.88, CADD 26.70, Uncertain significance, Ataxia-telangiectasia-like disorder
- S68P (p.Ser68Pro), rs1555017253, ClinGen CA382379739, ClinVar RCV002232298, ClinVar RCV005443100, REVEL 0.87, CADD 27.20, Uncertain significance, Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome
- R69K (p.Arg69Lys), Ensembl rs2135122852
- K70E (p.Lys70Glu), rs1555017247, ClinGen CA382379710, ClinVar RCV000569700, ClinVar RCV005000267, REVEL 0.34, CADD 24.20, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided
- K70R (p.Lys70Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T71A (p.Thr71Ala), gnomAD rs1947134490, REVEL 0.31, CADD 21.20
- T71I (p.Thr71Ile), gnomAD rs1947134384, REVEL 0.65, CADD 24.00
- L72F (p.Leu72Phe), Ensembl rs1565238989, REVEL 0.62, CADD 23.50, Uncertain significance, Hereditary cancer-predisposing syndrome
- L72S (p.Leu72Ser), ExAC rs747252386, gnomAD rs747252386, REVEL 0.92, CADD 28.00
- H73R (p.His73Arg), rs769313864, ClinGen CA194438, ClinVar RCV000165886, ClinVar RCV001114037, REVEL 0.56, CADD 23.50, Uncertain significance, Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome; no
- H73Y (p.His73Tyr), rs1023372148, ClinGen CA226541862, ClinVar RCV001300600, ClinVar RCV004944974, AlphaMissense 0.10, MetaLR 0.28, Uncertain significance, Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome
- T74I (p.Thr74Ile), 1000Genomes rs201054129, ExAC rs201054129, gnomAD rs201054129, Uncertain significance
- T74N (p.Thr74Asn), rs201054129, ClinGen CA6235441, ClinVar RCV000565496, ClinVar RCV003767106, REVEL 0.14, AlphaMissense 0.07, Uncertain significance, Ataxia-telangiectasia-like disorder; not provided; Ataxia-telangiectasia-like di
- T74P (p.Thr74Pro), Ensembl rs1591719198
- T74S (p.Thr74Ser), rs201054129, ClinGen CA382379634, ClinVar RCV000568546, 1000Genomes rs201054129, AlphaMissense 0.07, MetaLR 0.34, Uncertain significance, Hereditary cancer-predisposing syndrome
- C75* (p.Cys75Ter), Ensembl rs2135122663
- C75F (p.Cys75Phe), ExAC rs772423554, gnomAD rs772423554, REVEL 0.82, CADD 26.10, Uncertain significance
- C75R (p.Cys75Arg), Ensembl rs1947133261
- C75S (p.Cys75Ser), Ensembl rs1947133261
- C75Y (p.Cys75Tyr), rs772423554, ClinGen CA10579420, ClinVar RCV000219695, ClinVar RCV000761798, REVEL 0.85, CADD 25.90, Uncertain significance, Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome; no
- L76H (p.Leu76His), TOPMed rs876660516, gnomAD rs876660516, Uncertain significance
- L76R (p.Leu76Arg), rs876660516, ClinGen CA10579419, ClinVar RCV000217791, TOPMed rs876660516, REVEL 0.88, CADD 27.30, Uncertain significance, Hereditary cancer-predisposing syndrome
- E77* (p.Glu77Ter), rs779269083, ClinGen CA351220, ClinVar RCV000210166, ClinVar RCV002229537, CADD 37.00, Pathogenic
- E77D (p.Glu77Asp), rs755553376, ClinGen CA6235437, ClinVar RCV002233392, ClinVar RCV004944124, REVEL 0.33, CADD 21.60, Uncertain significance, Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome
- E77K (p.Glu77Lys), rs779269083, ClinGen CA6235438, NCI-TCGA Cosmic COSV6057, cosmic curated COSV60576, REVEL 0.30, CADD 21.90, Uncertain significance, Depression; Dementia; Parkinsonian disorder
- E77V (p.Glu77Val), rs1060501791, ClinGen CA16613464, ClinVar RCV000468523, ClinVar RCV001034661, REVEL 0.66, CADD 24.40, Uncertain significance, Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome
- L78* (p.Leu78Ter), rs2135122539, Ensembl rs2135122539, ClinGen CA382379585, ClinVar RCV003476512, Likely pathogenic
- L78F (p.Leu78Phe), Ensembl rs1591719100
- L78I (p.Leu78Ile), rs1308023057, ClinGen CA382379592, ClinVar RCV002460605, AlphaMissense 0.11, MetaLR 0.39, Uncertain significance, Hereditary cancer-predisposing syndrome
- L78V (p.Leu78Val), Ensembl rs1308023057, REVEL 0.20, AlphaMissense 0.11, Uncertain significance, Hereditary cancer-predisposing syndrome
- L79I (p.Leu79Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R80G (p.Arg80Gly), cosmic curated COSV10518, NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R80I (p.Arg80Ile), rs587782472, ClinGen CA333263, ClinVar RCV000131578, ClinVar RCV000524529, REVEL 0.92, CADD 28.30, Uncertain significance, Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome; At
- R80K (p.Arg80Lys), ExAC rs587782472, gnomAD rs587782472, Uncertain significance
- K81Q (p.Lys81Gln), rs1947131851, ClinGen CA382379566, cosmic curated COSV60581, ClinVar RCV002461450, AlphaMissense 0.10, MetaLR 0.40, Uncertain significance, Hereditary cancer-predisposing syndrome
- Y82H (p.Tyr82His), rs587781343, ClinGen CA163828, ClinVar RCV000129120, ClinVar RCV001339593, REVEL 0.87, CADD 24.80, Uncertain significance, Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome; At
- C83G (p.Cys83Gly), rs587782486, ClinGen CA168449, ClinVar RCV000131608, Ensembl rs587782486, AlphaMissense 0.44, MetaLR 0.76, Uncertain significance, Hereditary cancer-predisposing syndrome
- C83R (p.Cys83Arg), rs587782486, ClinGen CA382379552, ClinVar RCV000811462, ClinVar RCV003166304, REVEL 0.91, AlphaMissense 0.44, Uncertain significance, Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome
- C83Y (p.Cys83Tyr), rs2496619802, ClinGen CA382379551, ClinVar RCV002461570, ClinVar RCV003757242, REVEL 0.94, CADD 26.40, Uncertain significance, Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome
- M84I (p.Met84Ile), Ensembl rs1947131352
- M84T (p.Met84Thr), rs1482454029, ClinGen CA382379543, ClinVar RCV001015831, ClinVar RCV002549428, REVEL 0.85, CADD 25.90, Uncertain significance, Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia-like disorder; MR
- M84V (p.Met84Val), rs786203222, ClinGen CA195876, cosmic curated COSV60574, ClinVar RCV000166439, REVEL 0.68, CADD 25.10, Uncertain significance, Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome; no
Public MRE11 analysis runs
- MRE11 analysis run — MRE11 (1,657 variants) — completed 2026-08-19