ATM (Serine-protein kinase ATM) variants and mutations
ATM (also known as Serine-protein kinase ATM) is a human protein-coding gene encoding a serine-protein kinase protein. It is activated by DNA double-strand breaks and coordinates checkpoint arrest, repair, and apoptosis through phosphorylation of numerous targets. Biallelic loss causes ataxia-telangiectasia, while heterozygous pathogenic variants increase susceptibility to several cancers. This analysis covers 14,477 ATM variants and mutations. Of these, 55% have computational variant effect predictions. Disease context includes ataxia telangiectasia, Ataxia-telangiectasia, and cancer. Example ATM variants include M1?, M1I, and M1L.
Variant analysis overview
- Gene: ATM
- Protein: Serine-protein kinase ATM
- UniProt accession: Q13315
- Organism: Homo sapiens
- Variants analyzed: 14477
- Variant scope: all variants
- Completed: 2026-08-10
Variant and mutation evidence
- Variant composition: 14,350 unspecified-consequence records; 80 synonymous variants; 14 frameshift variants; 5 in-frame deletions; 15 missense variants; 1 stop-gained variants; 3 splice-region variants; 3 stop lost; 1 splice acceptor variant; 2 in-frame insertions; 3 substitution
- Prediction scores: 7,917 variants have prediction scores (55% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: ataxia telangiectasia, Ataxia-telangiectasia, cancer, neoplasm, Hereditary breast cancer, hereditary breast carcinoma, breast cancer, ATM-related cancer predisposition, breast neoplasm, urinary bladder carcinoma, susceptibility to breast cancer, familial colorectal cancer type X.
Protein structure and variant hotspots
- Protein features: 3 domains; 7 post-translational modification sites.
- Structural context: 4,624 variants have structural context.
- PTM context: 34 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, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable ATM variants
Examples include M1?, M1I, M1L, M1T, S2C, S2G, S2N, S2R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, rs730881359, ClinGen CA197028, NCI-TCGA Cosmic COSV5372, MetaLR 0.09, MetaSVM -0.99, Pathogenic
- M1I (p.Met1Ile), rs781404312, ClinGen CA382518896, ClinVar RCV004440277, MetaLR 0.12, MetaSVM -0.92, Pathogenic, Familial cancer of breast
- M1L (p.Met1Leu), rs730881359, ClinGen CA382518883, ClinVar RCV004440130, MetaLR 0.09, MetaSVM -0.99, Pathogenic, Familial cancer of breast
- M1T (p.Met1Thr), rs786203606, ClinGen CA197209, ClinVar RCV000166992, ClinVar RCV000168377, MetaLR 0.15, MetaSVM -0.80, Pathogenic
- S2C (p.Ser2Cys), Ensembl rs1591445677, Uncertain significance
- S2G (p.Ser2Gly), rs1591445677, ClinGen CA382518906, ClinVar RCV000793955, ClinVar RCV003166110, CADD 25.30, PolyPhen-2 0.96, Uncertain significance
- S2N (p.Ser2Asn), rs730881360, ClinGen CA382518922, ClinVar RCV000579727, ClinVar RCV000821860, AlphaMissense 0.26, MetaLR 0.22, Uncertain significance
- S2R (p.Ser2Arg), rs748158168, ClinGen CA6264497, ClinVar RCV001820466, ExAC rs748158168, CADD 23.50, PolyPhen-2 0.99, Uncertain significance, Hereditary cancer-predisposing syndrome
- S2T (p.Ser2Thr), rs730881360, ClinGen CA298207, ClinVar RCV000159710, TOPMed rs730881360, AlphaMissense 0.26, MetaLR 0.22, Uncertain significance
- L3I (p.Leu3Ile), Ensembl rs7112053, CADD 22.00, PolyPhen-2 1.00, Likely benign
- L3P (p.Leu3Pro), rs1555053861, ClinGen CA382518931, ClinVar RCV000538660, ClinVar RCV001018626, AlphaMissense 0.41, MetaLR 0.30, Uncertain significance
- L3Q (p.Leu3Gln), Ensembl rs1555053861, Uncertain significance
- L3V (p.Leu3Val), Ensembl rs7112053, Likely benign
- L3L (p.Leu3Leu), rs7112053, gnomAD 11-108227631-C-T, CADD 10.10
- V4A (p.Val4Ala), rs1555053873, ClinGen CA382518955, ClinVar RCV000560752, ClinVar RCV001185975, AlphaMissense 0.13, MetaLR 0.06, Uncertain significance
- V4E (p.Val4Glu), Ensembl rs1555053873, Uncertain significance
- V4G (p.Val4Gly), Ensembl rs1555053873, Uncertain significance
- V4I (p.Val4Ile), rs1438588853, ClinGen CA382518937, ClinVar RCV000627990, ClinVar RCV001017298, CADD 19.00, PolyPhen-2 0.01, Likely benign
- V4L (p.Val4Leu), rs1438588853, TOPMed rs1438588853, gnomAD rs1438588853, ClinGen CA382518942, CADD 19.00, PolyPhen-2 0.00, Likely benign
- V4V (p.Val4Val), rs786201365, gnomAD 11-108227636-A-G, CADD 10.30
- L5F (p.Leu5Phe), rs2078805774, ClinGen CA382518968, ClinVar RCV003017600, TOPMed rs2078805774, AlphaMissense 0.41, MetaLR 0.25, Uncertain significance, Ataxia-telangiectasia syndrome
- L5H (p.Leu5His), Ensembl rs2135004293
- L5P (p.Leu5Pro), Ensembl rs2135004293
- L5R (p.Leu5Arg), rs2135004293, ClinGen CA382518980, ClinVar RCV002389909, ClinVar RCV003230745, AlphaMissense 0.74, MetaLR 0.26, Uncertain significance
- L5V (p.Leu5Val), rs2078805774, ClinGen CA382518964, ClinVar RCV001368983, ClinVar RCV004800996, AlphaMissense 0.41, MetaLR 0.25, Uncertain significance
- L5L (p.Leu5Leu), rs1357506783, gnomAD 11-108227639-T-G, CADD 9.93
- N6* (p.Asn6Ter), rs876660842, ClinGen CA10578937, ClinVar RCV000213282, ClinVar RCV000485951, CADD 27.70, Pathogenic
- N6I (p.Asn6Ile), Ensembl rs2135004432
- N6K (p.Asn6Lys), Ensembl rs876659088, Likely benign
- N6Y (p.Asn6Tyr), Ensembl rs2135004375
- N6M (p.Asn6Met), gnomAD 11-108227636-AC-A, CADD 26.20
- D7E (p.Asp7Glu), Ensembl rs2135004566, CADD 17.20, PolyPhen-2 0.02
- D7H (p.Asp7His), rs2078806188, ClinGen CA382519002, ClinVar RCV001313217, ClinVar RCV004570738, AlphaMissense 0.20, MetaLR 0.20, Uncertain significance
- D7N (p.Asp7Asn), Ensembl rs2078806188, Uncertain significance
- D7V (p.Asp7Val), Ensembl rs2135004539
- D7Y (p.Asp7Tyr), rs2078806188, ClinGen CA382519006, ClinVar RCV003501880, AlphaMissense 0.20, MetaLR 0.20, Uncertain significance, Ataxia-telangiectasia syndrome
- D7del (p.Asp7del), gnomAD 11-108227640-AATG, CADD 19.00
- L8P (p.Leu8Pro), rs1555053885, ClinGen CA382519029, ClinVar RCV000794171, ClinVar RCV004027473, AlphaMissense 0.98, MetaLR 0.39, Uncertain significance
- L8Q (p.Leu8Gln), cosmic curated COSV53786, Ensembl rs1555053885, Uncertain significance
- L8R (p.Leu8Arg), rs1555053885, ClinGen CA382519032, ClinVar RCV000575540, ClinVar RCV002529020, AlphaMissense 0.98, MetaLR 0.39, Likely benign
- L8V (p.Leu8Val), Ensembl rs2135004594, Benign
- L8L (p.Leu8Leu), rs1555053888, gnomAD 11-108227648-G-A, CADD 8.96
- L9F (p.Leu9Phe), rs2078806539, ClinGen CA382519034, ClinVar RCV001296454, ClinVar RCV004951452, AlphaMissense 0.26, MetaLR 0.33, Uncertain significance
- L9H (p.Leu9His), rs2135004729, ClinGen CA382519041, ClinVar RCV003326191, Ensembl rs2135004729, AlphaMissense 0.48, MetaLR 0.37, Uncertain significance, not provided
- L9R (p.Leu9Arg), gnomAD 11-108227650-T-G, MetaLR 0.26, MetaSVM -0.72
- I10F (p.Ile10Phe), cosmic curated COSV10961, Ensembl rs876660671, Uncertain significance
- I10M (p.Ile10Met), cosmic curated COSV10807, Ensembl rs1591445856, Benign
- I10T (p.Ile10Thr), rs2135004898, ClinGen CA382519052, ClinVar RCV002033267, ClinVar RCV003299035, CADD 19.80, PolyPhen-2 0.06, Likely benign
- I10V (p.Ile10Val), rs876660671, ClinGen CA10578939, ClinVar RCV000214439, ClinVar RCV006273665, AlphaMissense 0.09, MetaLR 0.09, Uncertain significance
- C11* (p.Cys11Ter), Ensembl rs1555053901, Likely benign
- C11F (p.Cys11Phe), TOPMed rs1364898025, Uncertain significance
- C11R (p.Cys11Arg), rs2135004988, ClinGen CA382519067, ClinVar RCV002322970, ClinVar RCV005096193, AlphaMissense 0.90, MetaLR 0.39, Uncertain significance
- C11S (p.Cys11Ser), rs1364898025, ClinGen CA382519074, ClinVar RCV002454685, ClinVar RCV002464650, AlphaMissense 0.77, MetaLR 0.38, Uncertain significance
- C11W (p.Cys11Trp), Ensembl rs1555053901, Likely benign
- C11Y (p.Cys11Tyr), rs1364898025, ClinGen CA382519080, ClinVar RCV004523592, TOPMed rs1364898025, AlphaMissense 0.77, MetaLR 0.38, Uncertain significance, Hereditary cancer-predisposing syndrome
- C12* (p.Cys12Ter), rs2135005147, ClinGen CA382519094, ClinVar RCV002715095, Ensembl rs2135005147, AlphaMissense 0.96, MetaLR 0.36, Pathogenic
- C12R (p.Cys12Arg), rs1060501597, ClinGen CA16613042, ClinVar RCV000476227, Ensembl rs1060501597, AlphaMissense 0.97, MetaLR 0.40, Uncertain significance
- C12W (p.Cys12Trp), Ensembl rs2135005147, Pathogenic
- C12Y (p.Cys12Tyr), rs1591445899, ClinGen CA382519086, cosmic curated COSV10437, ClinVar RCV001020688, AlphaMissense 0.94, MetaLR 0.42, Uncertain significance
- R13C (p.Arg13Cys), rs141586345, ClinGen CA193543, ClinVar RCV000165494, ClinVar RCV000230359, AlphaMissense 0.43, MetaLR 0.26, Uncertain significance
- R13G (p.Arg13Gly), rs141586345, ClinGen CA382519101, ClinVar RCV001021180, ClinVar RCV001360912, AlphaMissense 0.43, MetaLR 0.26, Uncertain significance
- R13H (p.Arg13His), rs778201041, ClinGen CA334221, cosmic curated COSV53729, ClinVar RCV000168074, AlphaMissense 0.12, MetaLR 0.19, Uncertain significance
- R13L (p.Arg13Leu), rs778201041, ClinGen CA382519104, ClinVar RCV000566546, ClinVar RCV003500545, AlphaMissense 0.12, MetaLR 0.19, Uncertain significance
- R13S (p.Arg13Ser), rs141586345, ClinGen CA382519100, ClinVar RCV001338152, ClinVar RCV003169588, AlphaMissense 0.43, MetaLR 0.26, Uncertain significance
- Q14* (p.Gln14Ter), rs2135005331, ClinGen CA382519119, cosmic curated COSV53726, ClinVar RCV002815780, AlphaMissense 0.10, MetaLR 0.19, Pathogenic
- Q14E (p.Gln14Glu), Ensembl rs2135005331, Pathogenic
- Q14H (p.Gln14His), ExAC rs771378101, TOPMed rs771378101, gnomAD rs771378101, Benign
- Q14K (p.Gln14Lys), Ensembl rs2135005331, AlphaMissense 0.10, MetaLR 0.19, Pathogenic
- Q14L (p.Gln14Leu), ExAC rs749776879, gnomAD rs749776879, Uncertain significance
- Q14R (p.Gln14Arg), rs749776879, ClinGen CA6264498, ClinVar RCV000688270, ExAC rs749776879, CADD 16.20, PolyPhen-2 0.01, Uncertain significance
- p.Gln14 Glu16del, gnomAD 11-108227663-TCAA, CADD 19.90
- Q14Q (p.Gln14Gln), rs771378101, gnomAD 11-108227666-A-G, CADD 8.01
- L15I (p.Leu15Ile), Ensembl rs2135005496, Likely benign
- L15Q (p.Leu15Gln), rs1555053927, ClinGen CA382519152, ClinVar RCV000628060, Ensembl rs1555053927, AlphaMissense 0.92, MetaLR 0.53, Uncertain significance
- L15R (p.Leu15Arg), rs1555053927, ClinGen CA382519159, ClinVar RCV000533394, Ensembl rs1555053927, AlphaMissense 0.92, MetaLR 0.53, Uncertain significance
- L15V (p.Leu15Val), Ensembl rs2135005496, Likely benign
- L15* (p.Leu15Ter), rs771887195, gnomAD 11-108227666-AC-A, CADD 23.20
- E16* (p.Glu16Ter), rs2135005753, ClinGen CA382519170, ClinVar RCV003606290, AlphaMissense 0.26, MetaLR 0.34, Pathogenic
- E16D (p.Glu16Asp), ExAC rs774768437, TOPMed rs774768437, gnomAD rs774768437, Benign
- E16K (p.Glu16Lys), cosmic curated COSV99588, Ensembl rs2135005753
- E16N (p.Glu16Asn), NCI-TCGA Cosmic COSV9958, Variant assessed as somatic; high impact.
- E16Q (p.Glu16Gln), Ensembl rs2135005753
- E16V (p.Glu16Val), Ensembl rs2078808401
- E16E (p.Glu16Glu), rs774768437, gnomAD 11-108227672-A-G, CADD 12.30
- H17D (p.His17Asp), rs876658161, ClinGen CA382519197, ClinVar RCV001183354, TOPMed rs876658161, AlphaMissense 0.13, MetaLR 0.14, Uncertain significance
- H17N (p.His17Asn), rs876658161, ClinGen CA6264501, cosmic curated COSV99062, ClinVar RCV000219832, AlphaMissense 0.13, MetaLR 0.14, Uncertain significance
- H17P (p.His17Pro), rs1242444722, ClinGen CA382519206, ClinVar RCV003501931, AlphaMissense 0.18, MetaLR 0.11, Uncertain significance, Ataxia-telangiectasia syndrome
- H17R (p.His17Arg), rs1242444722, ClinGen CA382519213, ClinVar RCV001181264, ClinVar RCV001278349, AlphaMissense 0.18, MetaLR 0.11, Uncertain significance
- H17Y (p.His17Tyr), TOPMed rs876658161, gnomAD rs876658161, Uncertain significance
- H17H (p.His17His), rs1591446045, gnomAD 11-108227675-T-C, CADD 9.65
- D18A (p.Asp18Ala), Ensembl rs2135006070
- D18E (p.Asp18Glu), Ensembl rs786203926, Likely benign
- D18H (p.Asp18His), rs2078809121, ClinGen CA382519240, ClinVar RCV003085967, Ensembl rs2078809121, AlphaMissense 0.18, MetaLR 0.39, Uncertain significance, Ataxia-telangiectasia syndrome
- D18N (p.Asp18Asn), rs2078809121, ClinGen CA382519232, cosmic curated COSV53736, ClinVar RCV001297300, AlphaMissense 0.18, MetaLR 0.39, Uncertain significance
- D18V (p.Asp18Val), Ensembl rs2135006070
- D18Y (p.Asp18Tyr), rs2078809121, ClinGen CA382519237, ClinVar RCV003605265, AlphaMissense 0.18, MetaLR 0.39, Uncertain significance, Ataxia-telangiectasia syndrome
- R19* (p.Arg19Ter), Ensembl rs1565344118, Uncertain significance
- R19G (p.Arg19Gly), rs1565344118, ClinGen CA382519277, ClinVar RCV000709162, ClinVar RCV002343582, AlphaMissense 0.33, MetaLR 0.24, Uncertain significance
- R19I (p.Arg19Ile), Ensembl rs1064793029, Uncertain significance, Hereditary cancer-predisposing syndrome
- R19K (p.Arg19Lys), rs1064793029, ClinGen CA16619093, ClinVar RCV000482842, ClinVar RCV003584624, AlphaMissense 0.08, MetaLR 0.06, Uncertain significance
- R19S (p.Arg19Ser), Ensembl rs2135006246, Likely benign
- R19T (p.Arg19Thr), rs1064793029, ClinGen CA382519285, ClinVar RCV000774321, ClinVar RCV001210198, AlphaMissense 0.08, MetaLR 0.06, Uncertain significance
- A20D (p.Ala20Asp), Ensembl rs2078809726, Likely pathogenic
- A20G (p.Ala20Gly), rs2078809726, ClinGen CA382519310, ClinVar RCV001071690, ClinVar RCV002355103, AlphaMissense 0.15, MetaLR 0.25, Likely pathogenic
- A20P (p.Ala20Pro), Ensembl rs1555053946, AlphaMissense 0.21, MetaLR 0.34, Uncertain significance
- A20S (p.Ala20Ser), Ensembl rs1555053946, Uncertain significance
- A20T (p.Ala20Thr), rs1555053946, ClinGen CA382519297, ClinVar RCV000563287, ClinVar RCV001055893, AlphaMissense 0.21, MetaLR 0.34, Uncertain significance
- A20V (p.Ala20Val), Ensembl rs2078809726, Likely pathogenic
- T21A (p.Thr21Ala), rs1565344141, ClinGen CA382519319, ClinVar RCV000710674, ClinVar RCV001273648, AlphaMissense 0.12, MetaLR 0.13, Uncertain significance
- T21I (p.Thr21Ile), rs1442769051, ClinGen CA382519334, ClinVar RCV001959355, gnomAD rs1442769051, AlphaMissense 0.35, MetaLR 0.31, Uncertain significance
- T21K (p.Thr21Lys), rs1442769051, ClinGen CA382519327, ClinVar RCV003501333, AlphaMissense 0.35, MetaLR 0.31, Uncertain significance, Ataxia-telangiectasia syndrome
- T21P (p.Thr21Pro), rs1565344141, ClinGen CA382519316, ClinVar RCV003606451, AlphaMissense 0.12, MetaLR 0.13, Uncertain significance, Ataxia-telangiectasia syndrome
- T21R (p.Thr21Arg), rs1442769051, ClinGen CA382519331, ClinVar RCV003866561, ClinVar RCV006347966, AlphaMissense 0.35, MetaLR 0.31, Uncertain significance, Ataxia-telangiectasia syndrome; Hereditary cancer-predisposing syndrome
- T21S (p.Thr21Ser), Ensembl rs1565344141, Uncertain significance
- T21T (p.Thr21Thr), rs199853729, gnomAD 11-108227687-A-G, CADD 11.10
- E22* (p.Glu22Ter), cosmic curated COSV53736
- E22D (p.Glu22Asp), TOPMed rs1185359350, gnomAD rs1185359350, Benign
- E22G (p.Glu22Gly), NCI-TCGA Cosmic COSV9958, cosmic curated COSV99588, Variant assessed as somatic; moderate impact.
- E22K (p.Glu22Lys), rs2078810264, ClinGen CA382519343, ClinVar RCV002832919, TOPMed rs2078810264, AlphaMissense 0.30, MetaLR 0.42, Uncertain significance
- E22Q (p.Glu22Gln), TOPMed rs2078810264, gnomAD rs2078810264, AlphaMissense 0.30, MetaLR 0.42, Uncertain significance
- E22V (p.Glu22Val), TOPMed rs2078810362, gnomAD rs2078810362, CADD 31.00
- E22E (p.Glu22Glu), rs1185359350, gnomAD 11-108227690-A-G, CADD 13.40
- R23* (p.Arg23Ter), rs746235533, ClinGen CA6264503, NCI-TCGA Cosmic COSV5373, cosmic curated COSV53733, AlphaMissense 0.94, MetaLR 0.57, Pathogenic, in a colorectal adenocarcinoma sample
- R23G (p.Arg23Gly), rs746235533, ClinGen CA382519359, ClinVar RCV000579793, ClinVar RCV001508321, AlphaMissense 0.94, MetaLR 0.57, Pathogenic, in a colorectal adenocarcinoma sample
- R23P (p.Arg23Pro), rs587779858, ClinGen CA382519363, ClinVar RCV001061028, ClinVar RCV001177188, AlphaMissense 0.72, MetaLR 0.57, Uncertain significance, in a colorectal adenocarcinoma sample
- R23Q (p.Arg23Gln), rs587779858, ClinGen CA286947, NCI-TCGA Cosmic COSV5374, cosmic curated COSV53740, AlphaMissense 0.72, MetaLR 0.57, Uncertain significance, in a colorectal adenocarcinoma sample
- R23R (p.Arg23Arg), rs876659304, gnomAD 11-108227693-A-G, CADD 14.00
- K24* (p.Lys24Ter), gnomAD rs1469464426, AlphaMissense 0.64, MetaLR 0.19, Uncertain significance
- K24E (p.Lys24Glu), rs1469464426, ClinGen CA382519377, ClinVar RCV000773947, gnomAD rs1469464426, AlphaMissense 0.64, MetaLR 0.19, Uncertain significance
- K24M (p.Lys24Met), rs1060501710, ClinGen CA16613291, ClinVar RCV000466203, ClinVar RCV000580677, AlphaMissense 0.67, MetaLR 0.24, Uncertain significance
- K24N (p.Lys24Asn), rs2135006985, cosmic curated COSV10879, ClinGen CA382519392, ClinVar RCV002819736, AlphaMissense 0.89, MetaLR 0.19, Pathogenic
- K24R (p.Lys24Arg), rs2496890418, ClinGen CA2580082994, ClinVar RCV002370847, ClinVar RCV004055749, Pathogenic
- K24T (p.Lys24Thr), cosmic curated COSV53778
- K25* (p.Lys25Ter), Ensembl rs2135010444, Uncertain significance
- K25E (p.Lys25Glu), rs2135010444, ClinGen CA382519459, ClinVar RCV002994324, ClinVar RCV003308399, AlphaMissense 0.31, MetaLR 0.31, Uncertain significance, Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia syndrome
- K25N (p.Lys25Asn), TOPMed rs1591446716, Uncertain significance, Ataxia-telangiectasia syndrome
- K25R (p.Lys25Arg), rs751310537, ClinGen CA6264513, ClinVar RCV001047586, ExAC rs751310537, CADD 22.50, PolyPhen-2 0.05, Uncertain significance
- E26* (p.Glu26Ter), rs730881361, ClinGen CA382519475, cosmic curated COSV10437, ClinVar RCV003500339, AlphaMissense 0.35, MetaLR 0.28, Pathogenic
- E26D (p.Glu26Asp), rs786202953, ClinGen CA194814, cosmic curated COSV10584, ClinVar RCV000166031, CADD 22.90, PolyPhen-2 0.20, Likely benign
- E26G (p.Glu26Gly), rs1555054052, ClinGen CA382519490, ClinVar RCV000529438, ClinVar RCV004023655, AlphaMissense 0.33, MetaLR 0.20, Uncertain significance
- E26K (p.Glu26Lys), TOPMed rs730881361, gnomAD rs730881361, Pathogenic
- E26Q (p.Glu26Gln), rs730881361, ClinGen CA298210, ClinVar RCV000159711, ClinVar RCV000215116, AlphaMissense 0.35, MetaLR 0.28, Pathogenic
- V27A (p.Val27Ala), rs2078817440, ClinGen CA382519513, ClinVar RCV001373933, Ensembl rs2078817440, AlphaMissense 0.16, MetaLR 0.15, Uncertain significance
- V27D (p.Val27Asp), rs2078817440, ClinGen CA382519507, ClinVar RCV001056041, Ensembl rs2078817440, AlphaMissense 0.16, MetaLR 0.15, Uncertain significance
- V27F (p.Val27Phe), rs754770960, ClinGen CA382519501, ClinVar RCV001027037, ClinVar RCV001832364, AlphaMissense 0.35, MetaLR 0.19, Uncertain significance
- V27I (p.Val27Ile), rs754770960, ClinGen CA193258, ClinVar RCV000165389, ClinVar RCV000235556, AlphaMissense 0.35, MetaLR 0.19, Uncertain significance
- V27L (p.Val27Leu), rs754770960, ClinGen CA382519502, ClinVar RCV000793435, ClinVar RCV003279064, AlphaMissense 0.35, MetaLR 0.19, Uncertain significance
- E28D (p.Glu28Asp), rs1591446775, Ensembl rs1591446775, ClinGen CA382519547, ClinVar RCV002447722, CADD 16.90, PolyPhen-2 0.10, Likely benign
- E28G (p.Glu28Gly), Ensembl rs2135010912
- E28K (p.Glu28Lys), cosmic curated COSV10879, Uncertain significance, not specified; Ataxia-telangiectasia syndrome
- E28Q (p.Glu28Gln), cosmic curated COSV10584, Ensembl rs2135010867
- E28V (p.Glu28Val), Ensembl rs2135010912
- K29I (p.Lys29Ile), ESP rs147009251, ExAC rs147009251, gnomAD rs147009251, Uncertain significance
- K29R (p.Lys29Arg), rs147009251, ClinGen CA382519558, ClinVar RCV003296581, ClinVar RCV005102699, CADD 19.90, PolyPhen-2 0.03, Uncertain significance, Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia syndrome
- K29T (p.Lys29Thr), rs147009251, ClinGen CA6264514, ClinVar RCV000236878, ClinVar RCV000694073, CADD 21.00, PolyPhen-2 0.02, Uncertain significance
- F30C (p.Phe30Cys), rs876658520, ClinGen CA10582780, cosmic curated COSV53730, ClinVar RCV000230004, AlphaMissense 0.82, MetaLR 0.38, Uncertain significance
- F30I (p.Phe30Ile), rs2078817952, ClinGen CA382519563, ClinVar RCV001037226, Ensembl rs2078817952, AlphaMissense 0.63, MetaLR 0.34, Uncertain significance
- F30L (p.Phe30Leu), NCI-TCGA TCGA novel, Ensembl rs2135011233, Variant assessed as somatic; moderate impact.
- F30V (p.Phe30Val), cosmic curated COSV10961
- F30Y (p.Phe30Tyr), rs876658520, ClinGen CA10578941, ClinVar RCV000214935, ClinVar RCV003605609, AlphaMissense 0.82, MetaLR 0.38, Uncertain significance
- F30S (p.Phe30Ser), gnomAD 11-108227792-T-C, MetaLR 0.38, MetaSVM -0.23
- K31* (p.Lys31Ter), gnomAD rs1160192865
- K31E (p.Lys31Glu), gnomAD rs1160192865, CADD 24.10, PolyPhen-2 0.20
- K31M (p.Lys31Met), Ensembl rs2135011309
- K31N (p.Lys31Asn), rs863224583, ClinGen CA336966, ClinVar RCV000197073, ClinVar RCV000564628, CADD 22.70, PolyPhen-2 0.44, Likely benign
- K31R (p.Lys31Arg), Ensembl rs2135011309
- K31T (p.Lys31Thr), Ensembl rs2135011309, CADD 23.70, PolyPhen-2 0.03
- R32C (p.Arg32Cys), rs148061139, ClinGen CA169733, cosmic curated COSV53740, ClinVar RCV000132385, AlphaMissense 0.09, MetaLR 0.30, Likely benign
- R32G (p.Arg32Gly), rs148061139, ClinGen CA382519658, ClinVar RCV002374124, ESP rs148061139, AlphaMissense 0.09, MetaLR 0.30, Likely benign
- R32H (p.Arg32His), rs368161489, ClinGen CA298213, cosmic curated COSV10961, ClinVar RCV000459267, CADD 22.50, PolyPhen-2 0.02, Uncertain significance
- R32L (p.Arg32Leu), rs368161489, ClinGen CA6264515, cosmic curated COSV53745, ClinVar RCV000628022, CADD 22.70, PolyPhen-2 0.37, Uncertain significance
- R32P (p.Arg32Pro), ESP rs368161489, ExAC rs368161489, TOPMed rs368161489, gnomAD rs368161489, Uncertain significance
- R32S (p.Arg32Ser), rs148061139, ClinGen CA382519654, ClinVar RCV001993733, ClinVar RCV003170249, AlphaMissense 0.09, MetaLR 0.30, Likely benign
- R32R (p.Arg32Arg), rs1305090923, gnomAD 11-108227799-C-T, CADD 7.73
- L33M (p.Leu33Met), cosmic curated COSV99592, TOPMed rs1057522542, gnomAD rs1057522542, Benign
- L33P (p.Leu33Pro), rs2078818941, ClinGen CA382519697, ClinVar RCV001344830, Ensembl rs2078818941, AlphaMissense 0.43, MetaLR 0.43, Uncertain significance
- L33Q (p.Leu33Gln), Ensembl rs2078818941, Uncertain significance
- L33V (p.Leu33Val), TOPMed rs1057522542, gnomAD rs1057522542, Benign
- L33L (p.Leu33Leu), rs1057522542, gnomAD 11-108227800-C-T, CADD 8.52
- I34F (p.Ile34Phe), rs1555054094, ClinGen CA382519700, ClinVar RCV000780916, Ensembl rs1555054094, AlphaMissense 0.22, MetaLR 0.21, Uncertain significance
Public ATM analysis runs
- ATM analysis run — ATM (14,477 variants) — completed 2026-08-10