RAD50 (DNA repair protein RAD50) variants and mutations
RAD50 (also known as DNA repair protein RAD50) is a human protein-coding gene encoding a DNA repair protein. It provides ATP-dependent DNA tethering within the MRE11-RAD50-NBN complex and helps organize detection and processing of double-strand breaks. Biallelic loss-of-function variants can cause a Nijmegen-breakage-syndrome-like disorder with chromosome instability and developmental abnormalities. This analysis covers 3,347 RAD50 variants and mutations. Of these, 73% have computational variant effect predictions. Disease context includes Nijmegen breakage syndrome-like disorder, cancer, and Inherited cancer-predisposing syndrome. Example RAD50 variants include M1I, M1V, and S2A.
Variant analysis overview
- Gene: RAD50
- Protein: DNA repair protein RAD50
- UniProt accession: Q92878
- Organism: Homo sapiens
- Variants analyzed: 3347
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 3,164 unspecified-consequence records; 93 synonymous variants; 59 missense variants; 20 frameshift variants; 2 splice-region variants; 2 stop-gained variants; 1 in-frame deletions; 5 substitution
- Prediction scores: 2,453 variants have prediction scores (73% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Nijmegen breakage syndrome-like disorder, cancer, Inherited cancer-predisposing syndrome, hereditary neoplastic syndrome, Hereditary breast and ovarian cancer syndrome, hereditary breast ovarian cancer syndrome, breast carcinoma, Hereditary breast cancer, hereditary breast carcinoma, hepatocellular carcinoma, ovarian cancer, prostate carcinoma.
Protein structure and variant hotspots
- Protein features: 1 domains; 14 binding sites; 3 post-translational modification sites.
- Structural context: 195 variants have structural context.
- PTM context: 4 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 RAD50 variants
Examples include M1I, M1V, S2A, S2F, S2P, S2T, S2S, R3G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs377260382, ClinGen CA331889, ClinVar RCV000115961, ClinVar RCV001781448, MetaLR 0.21, MetaSVM -0.70, Pathogenic/Likely pathogenic, Hereditary cancer-predisposing syndrome; not provided; Nijmegen breakage syndrom
- M1V (p.Met1Val), rs876658212, ClinGen CA10578467, ClinVar RCV000222879, MetaLR 0.20, MetaSVM -0.70, Likely pathogenic, Hereditary cancer-predisposing syndrome
- S2A (p.Ser2Ala), rs1750018146, ClinGen CA360950650, ClinVar RCV002815325, AlphaMissense 0.34, MetaLR 0.03, Uncertain significance, Hereditary cancer-predisposing syndrome
- S2F (p.Ser2Phe), rs1554096631, ClinGen CA360950661, ClinVar RCV000632227, Ensembl rs1554096631, AlphaMissense 0.98, MetaLR 0.15, Conflicting interpretations, Hereditary cancer-predisposing syndrome
- S2P (p.Ser2Pro), rs1750018146, ClinGen CA360950643, NCI-TCGA Cosmic COSV9952, ClinVar RCV003747251, AlphaMissense 0.34, MetaLR 0.03, Uncertain significance, Hereditary cancer-predisposing syndrome
- S2T (p.Ser2Thr), rs1750018146, ClinGen CA360950642, ClinVar RCV002037159, Ensembl rs1750018146, AlphaMissense 0.34, MetaLR 0.03, Uncertain significance, Hereditary cancer-predisposing syndrome
- S2S (p.Ser2Ser), rs2149830047, gnomAD 5-132557330-C-T, CADD 14.80
- R3G (p.Arg3Gly), NCI-TCGA Cosmic COSV9952, Variant assessed as somatic; moderate impact.
- R3L (p.Arg3Leu), rs1277596729, ClinGen CA360950708, ClinVar RCV000632233, gnomAD rs1277596729, CADD 24.20, PolyPhen-2 0.01, Uncertain significance, Hereditary cancer-predisposing syndrome
- R3P (p.Arg3Pro), gnomAD rs1277596729, Uncertain significance
- R3Q (p.Arg3Gln), rs1277596729, ClinGen CA360950701, ClinVar RCV001360998, gnomAD rs1277596729, CADD 23.20, PolyPhen-2 0.03, Uncertain significance, Hereditary cancer-predisposing syndrome
- R3W (p.Arg3Trp), rs2149830050, ClinGen CA360950693, ClinVar RCV001942880, Ensembl rs2149830050, AlphaMissense 0.34, MetaLR 0.03, Uncertain significance, Hereditary cancer-predisposing syndrome
- I4M (p.Ile4Met), ExAC rs781295348, TOPMed rs781295348, gnomAD rs781295348, Likely benign
- I4V (p.Ile4Val), rs1060501972, ClinGen CA16611702, ClinVar RCV000460051, TOPMed rs1060501972, CADD 24.30, PolyPhen-2 0.49, Uncertain significance, Hereditary cancer-predisposing syndrome
- I4I (p.Ile4Ile), rs781295348, gnomAD 5-132557336-C-A, CADD 13.90
- E5* (p.Glu5Ter), rs2479573777, ClinGen CA2580072646, ClinVar RCV002347192, CADD 40.00, Likely pathogenic
- E5G (p.Glu5Gly), rs1750018807, ClinGen CA360950766, ClinVar RCV001039413, Ensembl rs1750018807, CADD 31.00, PolyPhen-2 0.73, Uncertain significance, Hereditary cancer-predisposing syndrome
- E5K (p.Glu5Lys), rs756334508, ClinGen CA3404874, ClinVar RCV000218712, ExAC rs756334508, CADD 32.00, PolyPhen-2 0.75, Uncertain significance, Hereditary cancer-predisposing syndrome
- K6E (p.Lys6Glu), rs1580974353, ClinGen CA360950776, ClinVar RCV001012791, Ensembl rs1580974353, CADD 26.20, PolyPhen-2 0.97, Uncertain significance, Hereditary cancer-predisposing syndrome
- K6N (p.Lys6Asn), rs1750018990, NCI-TCGA Cosmic COSV9952, Ensembl rs1750018990, ClinGen CA360950792, AlphaMissense 0.93, MetaLR 0.13, Uncertain significance, Hereditary cancer-predisposing syndrome
- K6R (p.Lys6Arg), rs2479573805, ClinGen CA360950790, ClinVar RCV002962528, Uncertain significance, Hereditary cancer-predisposing syndrome
- M7I (p.Met7Ile), rs1280108868, ClinGen CA360950807, ClinVar RCV003584135, Ensembl rs1280108868, AlphaMissense 0.79, MetaLR 0.04, Uncertain significance, Hereditary cancer-predisposing syndrome
- M7K (p.Met7Lys), rs1580974357, ClinGen CA360950801, ClinVar RCV004148573, AlphaMissense 0.96, MetaLR 0.10, Uncertain significance, Hereditary cancer-predisposing syndrome
- M7T (p.Met7Thr), rs1580974357, ClinGen CA360950802, ClinVar RCV000817788, Ensembl rs1580974357, AlphaMissense 0.96, MetaLR 0.10, Uncertain significance, Hereditary cancer-predisposing syndrome
- M7V (p.Met7Val), rs2479573814, ClinGen CA360950795, ClinVar RCV003746325, Uncertain significance, Hereditary cancer-predisposing syndrome
- M7R (p.Met7Arg), gnomAD 5-132557344-T-G, CADD 31.00, PolyPhen-2 0.98
- S8N (p.Ser8Asn), rs2479573824, ClinGen CA360950818, ClinVar RCV002450248, Uncertain significance, Hereditary cancer-predisposing syndrome
- S8R (p.Ser8Arg), ESP rs146833872, ExAC rs146833872, TOPMed rs146833872, gnomAD rs146833872, Likely benign
- S8S (p.Ser8Ser), rs146833872, gnomAD 5-132557348-C-T, CADD 14.40
- I9L (p.Ile9Leu), rs1750019317, ClinGen CA360950836, ClinVar RCV001872763, TOPMed rs1750019317, AlphaMissense 0.43, MetaLR 0.06, Uncertain significance, Hereditary cancer-predisposing syndrome
- I9V (p.Ile9Val), rs1750019317, ClinGen CA360950844, ClinVar RCV003747102, AlphaMissense 0.43, MetaLR 0.06, Uncertain significance, Hereditary cancer-predisposing syndrome
- I9T (p.Ile9Thr), gnomAD 5-132557350-T-C, CADD 24.90, PolyPhen-2 0.17
- L10L (p.Leu10Leu), rs749090292, gnomAD 5-132557352-C-T, CADD 12.30
- L10R (p.Leu10Arg), gnomAD 5-132557353-T-G, CADD 23.90, PolyPhen-2 0.02
- G11D (p.Gly11Asp), rs1561626939, ClinGen CA360950898, ClinVar RCV000702677, Ensembl rs1561626939, AlphaMissense 1.00, MetaLR 0.17, Uncertain significance, Hereditary cancer-predisposing syndrome
- G11E (p.Gly11Glu), rs1750019704, ClinGen CA916082758, ClinVar RCV001039902, Ensembl rs1750019704, Uncertain significance, Hereditary cancer-predisposing syndrome
- G11A (p.Gly11Ala), gnomAD 5-132557356-G-C, CADD 29.00, PolyPhen-2 1.00
- G11G (p.Gly11Gly), rs876660015, gnomAD 5-132557357-C-T, CADD 14.20
- V12G (p.Val12Gly), rs1580974376, ClinGen CA360950917, ClinVar RCV000792723, Ensembl rs1580974376, AlphaMissense 0.95, MetaLR 0.13, Uncertain significance, Hereditary cancer-predisposing syndrome
- V12L (p.Val12Leu), rs755022536, ClinGen CA10578469, ClinVar RCV000222784, ExAC rs755022536, CADD 28.80, PolyPhen-2 0.91, Uncertain significance, Hereditary cancer-predisposing syndrome
- V12M (p.Val12Met), rs755022536, ClinGen CA3404876, ClinVar RCV000542137, ClinVar RCV003313092, CADD 29.90, PolyPhen-2 0.99, Uncertain significance, Hereditary cancer-predisposing syndrome; Neuroepithelial tumor, PATZ1 fusion-pos
- V12V (p.Val12Val), gnomAD 5-132557360-G-T, CADD 13.00
- R13L (p.Arg13Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R13P (p.Arg13Pro), TOPMed rs1750020062, gnomAD rs1750020062, AlphaMissense 1.00, MetaLR 0.17, Uncertain significance, Hereditary cancer-predisposing syndrome
- R13Q (p.Arg13Gln), rs1750020062, ClinGen CA360950936, ClinVar RCV002357458, AlphaMissense 1.00, MetaLR 0.17, Uncertain significance, Hereditary cancer-predisposing syndrome
- R13R (p.Arg13Arg), rs779005784, gnomAD 5-132557363-G-A, CADD 14.60
- S14G (p.Ser14Gly), rs1750020259, ClinGen CA360950963, ClinVar RCV001887887, TOPMed rs1750020259, CADD 32.00, PolyPhen-2 1.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- S14N (p.Ser14Asn), rs1561626972, ClinGen CA360950968, ClinVar RCV000705894, Ensembl rs1561626972, AlphaMissense 0.90, MetaLR 0.15, Uncertain significance, Hereditary cancer-predisposing syndrome
- S14R (p.Ser14Arg), TOPMed rs1750020259, gnomAD rs1750020259, CADD 31.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- F15L (p.Phe15Leu), rs771506747, ClinGen CA3404878, ClinVar RCV000685037, ExAC rs771506747, CADD 24.60, PolyPhen-2 0.30, Uncertain significance, Hereditary cancer-predisposing syndrome
- F15V (p.Phe15Val), rs2479573926, ClinGen CA360950986, ClinVar RCV002333745, Uncertain significance, Hereditary cancer-predisposing syndrome
- F15Y (p.Phe15Tyr), gnomAD 5-132557368-T-A, CADD 31.00, PolyPhen-2 0.97
- F15F (p.Phe15Phe), rs771506747, gnomAD 5-132557369-T-C, CADD 15.70
- G16E (p.Gly16Glu), rs1554096634, ClinGen CA360951038, ClinVar RCV000565137, Ensembl rs1554096634, AlphaMissense 0.99, MetaLR 0.04, Uncertain significance, Hereditary cancer-predisposing syndrome
- G16R (p.Gly16Arg), rs1750020437, TOPMed rs1750020437, ClinGen CA360951017, ClinVar RCV002335305, AlphaMissense 0.99, MetaLR 0.06, Uncertain significance, Hereditary cancer-predisposing syndrome
- I17K (p.Ile17Lys), Ensembl rs942335090, Uncertain significance
- I17T (p.Ile17Thr), rs942335090, ClinGen CA360951050, ClinVar RCV000537327, ClinVar RCV005034088, CADD 23.40, PolyPhen-2 0.25, Uncertain significance, Hereditary cancer-predisposing syndrome; Nijmegen breakage syndrome-like disorde
- I17V (p.Ile17Val), rs2149830106, ClinGen CA360951048, ClinVar RCV002008767, Ensembl rs2149830106, CADD 18.40, PolyPhen-2 0.01, Uncertain significance, Hereditary cancer-predisposing syndrome
- I17R (p.Ile17Arg), gnomAD 5-132557372-AAT-A, CADD 32.00
- E18* (p.Glu18Ter), rs1449159448, ClinGen CA360951083, ClinVar RCV001045434, Ensembl rs1449159448, AlphaMissense 0.41, MetaLR 0.06, Pathogenic
- E18G (p.Glu18Gly), rs746681057, ClinGen CA3404880, ClinVar RCV000569659, ClinVar RCV004722931, CADD 32.00, PolyPhen-2 0.98, Uncertain significance, not provided; Hereditary cancer-predisposing syndrome
- E18K (p.Glu18Lys), rs1449159448, ClinGen CA360951069, ClinVar RCV001367309, ClinVar RCV006258558, AlphaMissense 0.41, MetaLR 0.06, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided
- D19G (p.Asp19Gly), rs775894807, ClinGen CA3404882, ClinVar RCV001024423, ExAC rs775894807, CADD 32.00, PolyPhen-2 1.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- D19N (p.Asp19Asn), rs770566177, ClinGen CA3404881, ClinVar RCV000569157, ExAC rs770566177, CADD 32.00, PolyPhen-2 1.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- D19Y (p.Asp19Tyr), rs770566177, ClinGen CA10578470, ClinVar RCV000220877, ClinVar RCV003477748, CADD 32.00, PolyPhen-2 0.96, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided
- D19D (p.Asp19Asp), rs1388089645, gnomAD 5-132557381-C-T, CADD 12.80
- K20E (p.Lys20Glu), rs1580974425, ClinGen CA360951153, ClinVar RCV001024661, Ensembl rs1580974425, AlphaMissense 0.23, MetaLR 0.05, Uncertain significance, Hereditary cancer-predisposing syndrome
- K20R (p.Lys20Arg), rs1554096640, ClinGen CA360951202, ClinVar RCV000572025, TOPMed rs1554096640, AlphaMissense 0.07, MetaLR 0.05, Uncertain significance, Hereditary cancer-predisposing syndrome
- D21E (p.Asp21Glu), rs545546432, ClinGen CA3404883, ClinVar RCV000459402, ClinVar RCV004568014, CADD 24.30, PolyPhen-2 0.11, Uncertain significance, Hereditary cancer-predisposing syndrome; Nijmegen breakage syndrome-like disorde
- D21G (p.Asp21Gly), rs1554096641, ClinGen CA360951234, ClinVar RCV002368772, AlphaMissense 0.60, MetaLR 0.05, Uncertain significance, Hereditary cancer-predisposing syndrome
- D21H (p.Asp21His), rs1750021195, ClinGen CA360951224, ClinVar RCV003302133, AlphaMissense 0.14, MetaLR 0.02, Uncertain significance, Hereditary cancer-predisposing syndrome
- D21N (p.Asp21Asn), rs1750021195, ClinGen CA360951218, ClinVar RCV001348994, Ensembl rs1750021195, AlphaMissense 0.14, MetaLR 0.02, Uncertain significance, Hereditary cancer-predisposing syndrome
- D21V (p.Asp21Val), rs1554096641, ClinGen CA360951236, ClinVar RCV000560964, gnomAD rs1554096641, AlphaMissense 0.60, MetaLR 0.05, Uncertain significance, Hereditary cancer-predisposing syndrome
- D21Y (p.Asp21Tyr), NCI-TCGA Cosmic COSV5475, Variant assessed as somatic; moderate impact.
- K22E (p.Lys22Glu), rs1325544381, ClinGen CA360951247, ClinVar RCV003584346, AlphaMissense 0.34, MetaLR 0.03, Uncertain significance, Hereditary cancer-predisposing syndrome
- K22Q (p.Lys22Gln), rs1325544381, ClinGen CA360951245, ClinVar RCV003031688, gnomAD rs1325544381, AlphaMissense 0.34, MetaLR 0.03, Uncertain significance, Hereditary cancer-predisposing syndrome
- K22T (p.Lys22Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- K22K (p.Lys22Lys), gnomAD 5-132557390-G-A, CADD 13.80
- Q23* (p.Gln23Ter), gnomAD rs1332783913, CADD 38.00
- Q23H (p.Gln23His), NCI-TCGA Cosmic COSV9952, Variant assessed as somatic; moderate impact.
- Q23K (p.Gln23Lys), gnomAD rs1332783913
- I25M (p.Ile25Met), rs765892279, ClinGen CA360951426, ClinVar RCV002394224, Uncertain significance, Hereditary cancer-predisposing syndrome
- I25T (p.Ile25Thr), rs1750021668, ClinGen CA360951409, ClinVar RCV001220080, Ensembl rs1750021668, AlphaMissense 0.95, MetaLR 0.21, Uncertain significance, Hereditary cancer-predisposing syndrome
- I25V (p.Ile25Val), rs1561627016, ClinGen CA360951388, ClinVar RCV000699757, Ensembl rs1561627016, AlphaMissense 0.11, MetaLR 0.11, Uncertain significance, Hereditary cancer-predisposing syndrome
- I25N (p.Ile25Asn), gnomAD 5-132557398-T-A, CADD 32.00, PolyPhen-2 1.00
- I25I (p.Ile25Ile), rs765892279, gnomAD 5-132557399-C-T, CADD 14.10
- T26A (p.Thr26Ala), rs1750021820, ClinGen CA360951438, ClinVar RCV002400573, ClinVar RCV006451244, AlphaMissense 0.07, MetaLR 0.02, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial cancer of breast
- T26I (p.Thr26Ile), rs2149830142, ClinGen CA360951454, ClinVar RCV001966880, Ensembl rs2149830142, AlphaMissense 0.16, MetaLR 0.04, Uncertain significance, Hereditary cancer-predisposing syndrome
- T26S (p.Thr26Ser), rs2149830142, ClinGen CA360951452, ClinVar RCV003463430, AlphaMissense 0.16, MetaLR 0.04, Uncertain significance, Nijmegen breakage syndrome-like disorder
- F27L (p.Phe27Leu), rs868228536, ClinGen CA360951474, ClinVar RCV001322743, Ensembl rs868228536, AlphaMissense 0.98, MetaLR 0.12, Uncertain significance, Hereditary cancer-predisposing syndrome
- F27F (p.Phe27Phe), rs868228536, gnomAD 5-132557405-C-T, AlphaMissense 0.98, MetaLR 0.12
- F28L (p.Phe28Leu), rs2149830144, ClinGen CA360951513, ClinVar RCV003877884, CADD 29.50, PolyPhen-2 0.56, Uncertain significance, Hereditary cancer-predisposing syndrome
- F28F (p.Phe28Phe), rs2149830144, gnomAD 5-132557408-C-T, CADD 17.10
- S29G (p.Ser29Gly), rs1554096648, ClinGen CA360951523, ClinVar RCV000571940, Ensembl rs1554096648, AlphaMissense 0.09, MetaLR 0.02, Uncertain significance, Hereditary cancer-predisposing syndrome
- S29I (p.Ser29Ile), rs1274079017, ClinGen CA360951548, ClinVar RCV001318427, TOPMed rs1274079017, CADD 23.10, PolyPhen-2 0.42, Uncertain significance, Hereditary cancer-predisposing syndrome
- S29N (p.Ser29Asn), TOPMed rs1274079017, gnomAD rs1274079017, CADD 18.30, PolyPhen-2 0.01, Uncertain significance
- S29T (p.Ser29Thr), TOPMed rs1274079017, gnomAD rs1274079017, Uncertain significance
- P30H (p.Pro30His), gnomAD rs1229919059, AlphaMissense 0.95, MetaLR 0.06, Uncertain significance
- P30L (p.Pro30Leu), rs1229919059, ClinGen CA360951565, ClinVar RCV002039966, gnomAD rs1229919059, AlphaMissense 0.95, MetaLR 0.06, Uncertain significance, Hereditary cancer-predisposing syndrome
- P30R (p.Pro30Arg), rs1229919059, ClinGen CA360951564, ClinVar RCV001018618, gnomAD rs1229919059, AlphaMissense 0.95, MetaLR 0.06, Uncertain significance, Hereditary cancer-predisposing syndrome
- P30S (p.Pro30Ser), rs1321131254, ClinGen CA360951557, ClinVar RCV001018480, gnomAD rs1321131254, AlphaMissense 0.94, MetaLR 0.05, Uncertain significance, Hereditary cancer-predisposing syndrome
- P30T (p.Pro30Thr), rs1321131254, ClinGen CA360951556, ClinVar RCV001313952, gnomAD rs1321131254, AlphaMissense 0.94, MetaLR 0.05, Uncertain significance, Hereditary cancer-predisposing syndrome
- P30P (p.Pro30Pro), rs1750022371, gnomAD 5-132557414-C-T, CADD 11.10
- L31F (p.Leu31Phe), rs2149830162, ClinGen CA360951571, ClinVar RCV002371234, Ensembl rs2149830162, AlphaMissense 0.75, MetaLR 0.13, Uncertain significance, Hereditary cancer-predisposing syndrome
- L31I (p.Leu31Ile), rs2149830162, ClinGen CA360951567, ClinVar RCV001954050, Ensembl rs2149830162, AlphaMissense 0.75, MetaLR 0.13, Uncertain significance, Hereditary cancer-predisposing syndrome
- L31P (p.Leu31Pro), gnomAD 5-132557410-G-GC, CADD 25.50
- L31V (p.Leu31Val), gnomAD 5-132557415-C-G, CADD 23.60, PolyPhen-2 0.99
- T32A (p.Thr32Ala), rs1554096651, ClinGen CA360951599, ClinVar RCV001226217, TOPMed rs1554096651, AlphaMissense 0.99, MetaLR 0.20, Uncertain significance, Hereditary cancer-predisposing syndrome
- T32I (p.Thr32Ile), rs1580974498, ClinGen CA360951627, ClinVar RCV003049800, AlphaMissense 1.00, MetaLR 0.20, Uncertain significance, Hereditary cancer-predisposing syndrome
- T32K (p.Thr32Lys), rs1580974498, ClinGen CA360951603, ClinVar RCV001019541, Ensembl rs1580974498, AlphaMissense 1.00, MetaLR 0.20, Uncertain significance, Hereditary cancer-predisposing syndrome
- T32P (p.Thr32Pro), rs1554096651, ClinGen CA360951585, ClinVar RCV002043409, TOPMed rs1554096651, AlphaMissense 0.99, MetaLR 0.20, Uncertain significance, Hereditary cancer-predisposing syndrome
- T32S (p.Thr32Ser), rs1554096651, ClinGen CA360951581, ClinVar RCV000542455, TOPMed rs1554096651, AlphaMissense 0.99, MetaLR 0.20, Uncertain significance, Hereditary cancer-predisposing syndrome
- T32N (p.Thr32Asn), rs587781625, gnomAD 5-132557417-T-TA, CADD 32.00
- I33S (p.Ile33Ser), rs1060501950, ClinGen CA16611703, ClinVar RCV000470145, Ensembl rs1060501950, AlphaMissense 0.96, MetaLR 0.05, Uncertain significance, Hereditary cancer-predisposing syndrome
- I33V (p.Ile33Val), rs2479574179, ClinGen CA360951630, ClinVar RCV002376794, CADD 19.50, PolyPhen-2 0.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- I33I (p.Ile33Ile), gnomAD 5-132557423-T-C, CADD 15.60
- L34F (p.Leu34Phe), Ensembl rs876659395, CADD 27.70, PolyPhen-2 0.99, Likely benign
- L34V (p.Leu34Val), rs2479574190, ClinGen CA360951643, ClinVar RCV004521618, Uncertain significance, Hereditary cancer-predisposing syndrome
- V35A (p.Val35Ala), rs1251435053, ClinGen CA360951707, ClinVar RCV001940224, TOPMed rs1251435053, AlphaMissense 0.73, MetaLR 0.09, Uncertain significance, Hereditary cancer-predisposing syndrome
- V35I (p.Val35Ile), rs1554096654, ClinGen CA360951658, ClinVar RCV001975727, Ensembl rs1554096654, CADD 28.50, PolyPhen-2 0.96, Uncertain significance, Hereditary cancer-predisposing syndrome
- V35L (p.Val35Leu), rs1554096654, ClinGen CA360951678, ClinVar RCV000570403, Ensembl rs1554096654, CADD 24.90, PolyPhen-2 0.68, Uncertain significance, Hereditary cancer-predisposing syndrome
- G36E (p.Gly36Glu), ExAC rs774754593, gnomAD rs774754593, CADD 32.00, PolyPhen-2 1.00
- G36R (p.Gly36Arg), Ensembl rs2149830181, CADD 33.00, PolyPhen-2 1.00
- P37L (p.Pro37Leu), rs1750022697, ClinGen CA360951770, ClinVar RCV001960948, gnomAD rs1750022697, CADD 29.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- P37S (p.Pro37Ser), rs876660763, ClinGen CA10578472, ClinVar RCV000216415, Ensembl rs876660763, CADD 26.10, PolyPhen-2 0.61, Uncertain significance, Hereditary cancer-predisposing syndrome
- P37A (p.Pro37Ala), gnomAD 5-132557433-C-G, CADD 23.90, PolyPhen-2 0.84
- P37P (p.Pro37Pro), rs762329874, gnomAD 5-132557435-C-A, CADD 13.30
- N38D (p.Asn38Asp), rs767540717, ClinGen CA3404887, ClinVar RCV001237782, ExAC rs767540717, CADD 31.00, PolyPhen-2 1.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- N38I (p.Asn38Ile), rs750480943, ClinGen CA360951821, ClinVar RCV001970339, ExAC rs750480943, AlphaMissense 0.89, MetaLR 0.12, Uncertain significance, Hereditary cancer-predisposing syndrome
- N38K (p.Asn38Lys), rs878854784, ClinGen CA10582368, ClinVar RCV000227199, Ensembl rs878854784, AlphaMissense 1.00, MetaLR 0.22, Uncertain significance, Hereditary cancer-predisposing syndrome
- N38S (p.Asn38Ser), rs750480943, ClinGen CA3404888, NCI-TCGA Cosmic COSV9952, ClinVar RCV000233503, AlphaMissense 0.89, MetaLR 0.12, Uncertain significance, Hereditary cancer-predisposing syndrome
- N38Q (p.Asn38Gln), gnomAD 5-132557434-C-CAC, CADD 32.00
- A40E (p.Ala40Glu), Ensembl rs1554096657, Uncertain significance
- A40S (p.Ala40Ser), ExAC rs756353698, gnomAD rs756353698, AlphaMissense 0.24, MetaLR 0.07
- A40T (p.Ala40Thr), rs756353698, ClinGen CA360951867, ClinVar RCV002837482, NCI-TCGA TCGA novel, AlphaMissense 0.24, MetaLR 0.07, Uncertain significance, Hereditary cancer-predisposing syndrome
- A40V (p.Ala40Val), rs1554096657, ClinGen CA360951907, ClinVar RCV000570163, ClinVar RCV000764570, CADD 31.00, PolyPhen-2 0.99, Uncertain significance, Hereditary cancer-predisposing syndrome; Nijmegen breakage syndrome-like disorde
- A40A (p.Ala40Ala), gnomAD 5-132557444-G-T, CADD 9.62
- G41E (p.Gly41Glu), gnomAD rs1473775948, CADD 32.00, PolyPhen-2 1.00
- G41R (p.Gly41Arg), rs1554096658, ClinGen CA360951909, ClinVar RCV000574715, Ensembl rs1554096658, CADD 32.00, PolyPhen-2 1.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- G41G (p.Gly41Gly), rs754054728, gnomAD 5-132557447-A-T, CADD 15.40
- K42N (p.Lys42Asn), rs754823399, ClinGen CA3404891, ClinVar RCV001010674, ExAC rs754823399, CADD 26.50, PolyPhen-2 1.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- K42Q (p.Lys42Gln), rs2479574281, ClinGen CA360951937, ClinVar RCV002811640, Uncertain significance, Hereditary cancer-predisposing syndrome
- K42K (p.Lys42Lys), rs754823399, gnomAD 5-132557450-G-A, CADD 13.50
- T43A (p.Thr43Ala), rs864622474, ClinGen CA349832, ClinVar RCV000205716, TOPMed rs864622474, CADD 33.00, PolyPhen-2 0.94, Uncertain significance, Hereditary cancer-predisposing syndrome
- T43K (p.Thr43Lys), rs369819304, ClinGen CA360952021, ClinVar RCV002383274, AlphaMissense 1.00, MetaLR 0.29, Uncertain significance, Hereditary cancer-predisposing syndrome
- T43M (p.Thr43Met), rs369819304, ClinGen CA3404892, ClinVar RCV000562508, ESP rs369819304, AlphaMissense 1.00, MetaLR 0.29, Uncertain significance, Hereditary cancer-predisposing syndrome
- T44I (p.Thr44Ile), rs1229751571, ClinGen CA360953126, ClinVar RCV002385651, AlphaMissense 0.99, MetaLR 0.25, Uncertain significance, Hereditary cancer-predisposing syndrome
- T44N (p.Thr44Asn), rs1229751571, ClinGen CA360953122, ClinVar RCV000531260, gnomAD rs1229751571, AlphaMissense 0.99, MetaLR 0.25, Uncertain significance, Hereditary cancer-predisposing syndrome
- T44S (p.Thr44Ser), rs377388354, ClinGen CA3404915, ClinVar RCV000219093, ClinVar RCV003137825, CADD 31.00, PolyPhen-2 1.00, Uncertain significance, not provided; Hereditary cancer-predisposing syndrome; Nijmegen breakage syndrom
- T44T (p.Thr44Thr), rs864622315, gnomAD 5-132559286-C-G, CADD 15.20
- I45T (p.Ile45Thr), rs786202168, ClinGen CA191933, ClinVar RCV000164856, Ensembl rs786202168, CADD 27.30, PolyPhen-2 1.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- I45V (p.Ile45Val), rs1554096786, ClinGen CA360953145, ClinVar RCV000543852, Ensembl rs1554096786, AlphaMissense 0.07, MetaLR 0.10, Uncertain significance, Hereditary cancer-predisposing syndrome
- I45I (p.Ile45Ile), rs745566783, gnomAD 5-132559289-C-T, CADD 13.70
- I46N (p.Ile46Asn), rs587780149, ClinGen CA288193, ClinVar RCV000115932, ClinVar RCV001369003, AlphaMissense 0.99, MetaLR 0.17, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided
- I46T (p.Ile46Thr), rs587780149, ClinGen CA360953186, ClinVar RCV000549208, ExAC rs587780149, AlphaMissense 0.99, MetaLR 0.17, Uncertain significance, Hereditary cancer-predisposing syndrome
- I46V (p.Ile46Val), rs1750077851, ClinGen CA360953175, ClinVar RCV003239298, Ensembl rs1750077851, AlphaMissense 0.18, MetaLR 0.09, Uncertain significance, Familial cancer of breast
- I46I (p.Ile46Ile), gnomAD 5-132559292-T-C, CADD 13.30
- E47* (p.Glu47Ter), rs2479579590, ClinGen CA2739275057, ClinVar RCV003747299, AlphaMissense 0.99, MetaLR 0.13, Pathogenic
- E47Q (p.Glu47Gln), rs1750077980, ClinGen CA360953205, ClinVar RCV001214726, Ensembl rs1750077980, AlphaMissense 0.99, MetaLR 0.13, Uncertain significance, Hereditary cancer-predisposing syndrome
- E47E (p.Glu47Glu), rs1257141008, gnomAD 5-132559295-A-G, CADD 12.90
- C48R (p.Cys48Arg), TOPMed rs1750078092
- C48Y (p.Cys48Tyr), gnomAD rs1442006994, CADD 29.80, PolyPhen-2 1.00
- C48F (p.Cys48Phe), gnomAD 5-132559297-G-T, CADD 31.00, PolyPhen-2 1.00
- C48W (p.Cys48Trp), gnomAD 5-132559298-T-G, CADD 27.40, PolyPhen-2 1.00
- L49I (p.Leu49Ile), gnomAD 5-132559299-C-A, CADD 23.40, PolyPhen-2 1.00
- L49L (p.Leu49Leu), rs1457136759, gnomAD 5-132559301-A-G, CADD 6.73
- K50* (p.Lys50Ter), rs876658371, ClinGen CA360953274, ClinVar RCV003055407, AlphaMissense 0.56, MetaLR 0.10, Pathogenic
- K50Q (p.Lys50Gln), rs876658371, ClinGen CA10578474, ClinVar RCV000228619, TOPMed rs876658371, AlphaMissense 0.56, MetaLR 0.10, Uncertain significance, Hereditary cancer-predisposing syndrome
- K50E (p.Lys50Glu), gnomAD 5-132559302-A-G, CADD 29.40, PolyPhen-2 0.97
- Y51* (p.Tyr51Ter), rs2149831280, ClinGen CA360953330, ClinVar RCV001920542, Ensembl rs2149831280, CADD 35.00, Pathogenic
- Y51C (p.Tyr51Cys), rs149010606, ClinGen CA3404916, ClinVar RCV000563854, ESP rs149010606, CADD 29.30, PolyPhen-2 0.99, Uncertain significance, Hereditary cancer-predisposing syndrome
- Y51H (p.Tyr51His), rs2149831277, ClinGen CA360953314, ClinVar RCV001985952, Ensembl rs2149831277, AlphaMissense 0.93, MetaLR 0.13, Uncertain significance, Hereditary cancer-predisposing syndrome
- I52L (p.Ile52Leu), rs1060501969, ClinGen CA360953345, ClinVar RCV003027239, AlphaMissense 0.06, MetaLR 0.02, Uncertain significance, Hereditary cancer-predisposing syndrome
- I52V (p.Ile52Val), rs1060501969, ClinGen CA16611704, ClinVar RCV000466494, Ensembl rs1060501969, AlphaMissense 0.06, MetaLR 0.02, Uncertain significance, Hereditary cancer-predisposing syndrome
- I52F (p.Ile52Phe), rs876659837, gnomAD 5-132559307-TA-T, CADD 25.90
- I52T (p.Ile52Thr), gnomAD 5-132559309-T-C, CADD 22.80, PolyPhen-2 0.03
- C53G (p.Cys53Gly), rs2479579644, ClinGen CA360953368, ClinVar RCV002405787, Uncertain significance, Hereditary cancer-predisposing syndrome
- C53S (p.Cys53Ser), rs876660673, ClinGen CA10578476, ClinVar RCV000216004, Ensembl rs876660673, CADD 21.40, PolyPhen-2 0.01, Uncertain significance, Hereditary cancer-predisposing syndrome
- C53Y (p.Cys53Tyr), rs876660673, ClinGen CA360953371, ClinVar RCV000571396, ClinVar RCV004569161, CADD 26.10, PolyPhen-2 0.75, Uncertain significance, Hereditary cancer-predisposing syndrome; Nijmegen breakage syndrome-like disorde
- C53R (p.Cys53Arg), gnomAD 5-132559311-T-C, CADD 26.00, PolyPhen-2 0.51
Public RAD50 analysis runs
- RAD50 analysis run — RAD50 (3,347 variants) — completed 2026-08-18