About ATM
No gene-level summary was recorded for this case.
Previous versions
Variant interpretation report
ATM c.8047A>G, p.(Ile2683Val)
Classification
Not classified
Variant description:
No variant summary was recorded for this case.
Five-step scale from benign to pathogenic. Select a step to read what it means.
Not classified yet.Select a step to read what it means.
In plain language
Gene-level background from the recorded interpretation.
Words with a dotted underline have a short definition. Hover or tap them.
LYFE Sciences is an AI system, and it can make mistakes.
Criteria may be applied incorrectly, sources may be misread, and a
confident-looking classification can still be wrong.
Double-check every criterion and its underlying evidence
before relying on any call.
01The reasoning
How it was classified
The recorded framework is ClinGen ATM VCEP v1.5.0. The criteria and strengths shown below come from the saved assessment; this page does not recalculate the classification.
Recorded applied criteria
The applied criteria and their strengths are shown as assessed under the stated framework.
Pathogenic evidence criteria: 1
Benign evidence criteria: 1
Pathogenic criteria applied · 1
PM2Supporting
PM2 · supporting
This variant has a frequency of 0.00081% (8.06e-06, 13/1,613,486 alleles) in gnomAD v4.1, which is ≤0.001% meeting the ATM VCEP threshold for PM2_Supporting. The VCEP specifies PM2 should be applied at supporting strength only (not moderate).
Benign criteria applied · 1
BP4Supporting
BP4 · supporting
This missense variant has a REVEL score of 0.165, which is ≤0.249, meeting the ATM VCEP BP4 threshold for missense variants. Additionally, SpliceAI predicts no splicing impact (max delta score = 0.00, which is ≤0.1), satisfying the splicing component. The VCEP supplementary table (Suppl_TableS1, PMID 40580951) also classifies this variant as 'Functional' (combined score -0.265, High confidence). BayesDel score of -0.311657 further supports a benign computational prediction.
Recorded classification: Not classified
Richards et.al., 2015 - Combining rules v1.5.0 criteria-combination framework: matched Rule31 (Benign.Supporting >=1 + Pathogenic.Supporting >=1) with applied criteria: PM2 supporting, BP4 supporting benign; maps to Uncertain Significance - Conflicting Evidence.
02The sources
Evidence at a glance
Evidence summaries and captured source records, where available. Missing entries should not be interpreted as negative findings.
gnomAD v4.1
gnomAD v2.1
Population frequency
13 / 1,613,486 alleles
gnomAD v4.1: 13 / 1,613,486 alleles. Recorded AF 8.05709e-06. Recorded homozygote count 0.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 7.95944e-06; MAF= 0.00080%, 2/251274 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 1.76047e-05; MAF= 0.00176%, 2/113606 alleles, homozygotes = 0); grpmax FAF= 2.92e-06.
SpliceAI score
0.000 maximum delta
Recorded SpliceAI maximum delta score: 0.000. Refer to the recorded PP3/BP4 rationale for interpretation.
ClinVar submissions
4 reported laboratory submissions
3 Uncertain significance · 1 Likely benign.
Context only
ClinVar ↗
Functional evidence
Statement recorded
OncoKB did not identify variant-specific reviewed functional evidence for this variant; gene-level curated context is available for reviewer follow-up. ATM, a kinase involved in the DNA damage response, is mutated in various solid and hematologic malignancies.
No listed criterion applied
OncoKB ↗
COSMIC
Cancer Hotspots
Somatic evidence
No matching record reported
This variant has not previously been reported in somatic cancers (COSMIC).
Cancer Hotspots
This variant does not lie in a statistically significant hotspot.
Context only
For specialists
Technical detail
ACMG/AMP criteria under ClinGen ATM VCEP v1.5.0, with the data and sources behind each one.
26 criteria with recorded statuses: 2 met · 5 not met · 5 not assessed · 14 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.
Met
Not met
Not assessed
Not applicable
This variant is a missense substitution (c.8047A>G, p.Ile2683Val) in ATM, assessed under the ClinGen HBOP VCEP v1.5.0 framework.
The variant is present in gnomAD v4.1 at a very low frequency (AF=0.00081%, 13/1,613,486 alleles, grpmax FAF=0.0005%), meeting the PM2_Supporting criterion (≤0.001% threshold).
Computational evidence supports a benign effect: REVEL score of 0.165 (≤0.249 threshold), BayesDel score of -0.311657, and SpliceAI predicts no splicing impact (max delta=0.00, ≤0.1), meeting BP4_Supporting. The VCEP supplementary computational meta-predictor (Suppl_TableS1, PMID 40580951) classifies this variant as Functional with High confidence.
No functional assay data (kinase activity or radiosensitivity rescue) are available for this variant, so PS3 and BS3 cannot be assessed.
No case-control studies, segregation data, or trans/homozygous observations in unaffected individuals were identified, leaving PS4, PP1, and BP2 unassessed.
ClinVar lists this variant as Uncertain significance (3 clinical laboratories) and Likely benign (1 clinical laboratory) with no expert panel submissions.
Applying the VCEP combining rules: PM2_Supporting (1 pathogenic supporting) and BP4_Supporting (1 benign supporting) yields a classification of Uncertain Significance - Conflicting Evidence per Rule 31.
No criteria match.
Met · 2
PM2 SupportingThis variant has a frequency of 0.00081% (8.06e-06, 13/1,613,486 alleles) in gnomAD v4.1, which is ≤0.001% meeting the ATM VCEP threshold for PM2_Supporting. The VCEP specifies PM2 should be applied at supporting strength only (not moderate). Details ▾Hide ▴
Evidence considered
- gnomAD v4.1 AF = 8.06e-06 (0.00081%)
- 13/1
- 613
- 486 alleles
- grpmax FAF = 5e-06
- meets VCEP threshold of ≤0.001%.
Sources
BP4 SupportingThis missense variant has a REVEL score of 0.165, which is ≤0.249, meeting the ATM VCEP BP4 threshold for missense variants. Additionally, SpliceAI predicts no splicing impact (max delta score = 0.00, which is ≤0.1), satisfying the splicing component. The VCEP supplementary table (Suppl_TableS1, PMID 40580951) also classifies this variant as 'Functional' (combined score -0.265, High confidence). BayesDel score of -0.311657 further supports a benign computational prediction. Details ▾Hide ▴
Evidence considered
- REVEL = 0.165 (≤0.249)
- SpliceAI max delta = 0.00 (≤0.1)
- BayesDel = -0.311657
- Suppl_TableS1 classification: Functional (High confidence).
Sources
Not met · 5 · evaluated, threshold not reached
PS1 PS1 requires a different nucleotide change producing the same amino acid change (Ile2683Val) that has been established as pathogenic. Review of the VCEP supplementary table (Suppl_TableS1) and ClinVar shows no alternative nucleotide substitution at codon 2683 producing I2683Val (c.8047A>C/T both produce I2683L; c.8048T>C/G/A produce I2683T/R/K; c.8049A>G produces I2683M). No pathogenic variant with the identical amino acid change exists at this residue. Details ▾Hide ▴
PP3 For missense variants, the ATM VCEP requires a REVEL score >0.7333 to apply PP3. The REVEL score for this variant is 0.165, which does not meet the threshold. For splicing, SpliceAI max delta score is 0.00, which does not meet the ≥0.2 threshold. BayesDel score is -0.311657, also inconsistent with a damaging prediction. Details ▾Hide ▴
Evidence considered
- REVEL = 0.165 (threshold >0.7333 not met)
- SpliceAI max delta = 0.00 (threshold ≥0.2 not met)
- BayesDel = -0.311657.
Sources
BA1 The ATM VCEP requires a grpmax filtering allele frequency >0.5% in gnomAD v4 for BA1. The grpmax FAF for this variant in gnomAD v4.1 is 5e-06 (0.0005%), which is far below the 0.5% threshold. Details ▾Hide ▴
Evidence considered
- gnomAD v4.1 grpmax FAF = 5e-06 (0.0005%)
- threshold >0.5% not met.
Sources
BS1 The ATM VCEP requires a grpmax filtering allele frequency >0.05% in gnomAD v4 for BS1. The grpmax FAF for this variant in gnomAD v4.1 is 5e-06 (0.0005%), which is below the 0.05% threshold. Details ▾Hide ▴
Evidence considered
- gnomAD v4.1 grpmax FAF = 5e-06 (0.0005%)
- threshold >0.05% not met.
Sources
PS5 PS5 is not defined in the ATM VCEP v1.5.0 framework. Under generic ACMG/AMP rules, PS5 applies when a reputable source recently reports the variant as pathogenic without the evidence being independently evaluated. No reputable source reports this variant as pathogenic; ClinVar shows Uncertain significance (3 clinical laboratories) and Likely benign (1 clinical laboratory). Details ▾Hide ▴
Not assessed · 5 · no assessment recorded
PS3 No well-established functional assay data are available for this variant. The ATM VCEP PS3 rules require rescue assays demonstrating failure to rescue ATM-specific kinase activity and/or radiosensitivity. The VCEP supplementary functional assay spreadsheets (kinase activity and radiosensitivity) do not list this specific variant. The computational meta-predictor in Suppl_TableS1 (PMID 40580951) classifies c.8047A>G as 'Functional' (combined score -0.265, High confidence), which is a computational prediction, not a wet-lab functional assay suitable for PS3/BS3. Details ▾Hide ▴
Evidence considered
- Suppl_TableS1 computational classification: Functional (combined score -0.265
- High confidence)
- no wet-lab functional assay data in VCEP kinase/radiosensitivity tables
- OncoKB reports Unknown Oncogenic Effect.
Still missing
- No kinase activity or radiosensitivity rescue assay data available for this variant.
Sources
PS4 No case-control study with a p-value ≤0.05 and an odds ratio/relative risk ≥2 (or lower 95% CI ≥1.5) has been identified for this specific variant. The ATM VCEP limits PS4 to formal case-control studies; proband counting is not permitted for PS4_Moderate. Details ▾Hide ▴
PP1 The ATM VCEP restricts PP1 to autosomal recessive (A-T) conditions where affected relatives must have both variants identified in the proband. No segregation data are available for this variant. For autosomal dominant conditions, the VCEP explicitly instructs not to use PP1 because co-segregation analysis in lower-penetrance genes can lead to false positive results. Details ▾Hide ▴
Evidence considered
- No segregation data available.
Still missing
- No co-segregation data reported for this variant.
Sources
BS3 No functional assay data are available showing that this variant rescues either ATM-specific features (e.g., phosphorylation of ATM-specific targets) or radiosensitivity. The VCEP supplementary functional assay spreadsheets do not include this variant. The computational meta-predictor in Suppl_TableS1 classifies the variant as 'Functional' (combined score -0.265, High confidence), but this is a computational prediction rather than a wet-lab functional assay suitable for BS3. Details ▾Hide ▴
Evidence considered
- Suppl_TableS1 computational classification: Functional
- VCEP functional assay spreadsheets do not include this variant
- no wet-lab rescue assay data.
Still missing
- No kinase activity rescue or radiosensitivity rescue assay data available for this variant.
Sources
BP2 The ATM VCEP applies BP2 through the PM3/BP2 point table for observations of the variant in trans with a pathogenic variant or in homozygous state in unaffected individuals (≥18 years, no evidence of A-T). No such observations have been identified for this variant in the available evidence. Details ▾Hide ▴
Evidence considered
- No trans or homozygous observations in unaffected individuals identified.
Still missing
- No data on co-occurrence in trans or homozygous state in unaffected individuals.
Sources
cspec ↗vcep_atm_pm3_bp2_1_5
Not applicable · 14· recorded as not applicable Show reasons ▾Hide reasons ▴
PVS1 N/AThis is a missense variant (NP_000042.3:p.Ile2683Val). PVS1 under the ATM VCEP v1.5.0 decision tree applies only to null variants (nonsense, frameshift, canonical +/-1 or 2 splice sites, initiation codon, single or multi-exon deletion). Missense variants do not qualify. Details ▾Hide ▴
Evidence considered
- Variant is a missense substitution
- not a null variant
- PVS1 decision tree not applicable.
Sources
PS2 VCEPThe ATM VCEP v1.5.0 explicitly states PS2 should not be used for AD or AR disease, as informative de novo occurrences have not been observed and de novo AR conditions are unlikely to be informed by phase. Details ▾Hide ▴
PM1 VCEPThe ATM VCEP v1.5.0 explicitly states PM1 should not be used: benign and pathogenic variants are known to occur within the same domains, and germline mutational hotspots are not well defined at this time. Details ▾Hide ▴
PM5 N/AThe ATM VCEP v1.5.0 restricts PM5 to frameshifting or truncating variants with premature termination codons upstream of p.Arg3047, or splice variants where PVS1_VS(RNA) is applied. This is a missense variant, and the VCEP explicitly states: 'Do not use for missense changes.' Details ▾Hide ▴
Evidence considered
- Missense variant
- VCEP restricts PM5 to truncating/splice variants only.
Sources
cspec ↗pm5_candidates
PM6 VCEPThe ATM VCEP v1.5.0 explicitly states PM6 should not be used for AD or AR disease, as informative de novo occurrences have not been observed and de novo AR conditions are unlikely to be informed by phase. Details ▾Hide ▴
PP2 VCEPThe ATM VCEP v1.5.0 explicitly states PP2 should not be used because ATM does not have a defined low rate of benign missense variation. Details ▾Hide ▴
PP4 VCEPThe ATM VCEP v1.5.0 explicitly states PP4 should not be used: for autosomal dominant disease, breast cancer has multiple genetic etiologies with no features distinguishing hereditary from sporadic causes; for autosomal recessive disease, such evidence is built into the PM3/BP2 table. Details ▾Hide ▴
PP5 VCEPThe ATM VCEP v1.5.0 explicitly states PP5 is not for use as recommended by the ClinGen Sequence Variant Interpretation VCEP Review Committee. Details ▾Hide ▴
BS2 VCEPThe ATM VCEP v1.5.0 explicitly states BS2 should not be used because ATM has incomplete penetrance. Details ▾Hide ▴
BS4 VCEPThe ATM VCEP v1.5.0 states BS4 should not be used: for autosomal dominant conditions, co-segregation analysis can lead to false positive results; for autosomal recessive conditions, informative instances of lack of co-segregation in A-T families are too rare for weighting. Details ▾Hide ▴
BP1 VCEPThe ATM VCEP v1.5.0 explicitly states BP1 should not be used because missense pathogenic variants are known for ATM. Details ▾Hide ▴
BP5 VCEPThe ATM VCEP v1.5.0 explicitly states BP5 should not be used: cases with multiple pathogenic variants have been observed with no noticeable difference in phenotype, and ATM has low penetrance, so it will naturally co-occur with other pathogenic variants more frequently. Details ▾Hide ▴
BP6 VCEPThe ATM VCEP v1.5.0 explicitly states BP6 is not for use as recommended by the ClinGen Sequence Variant Interpretation VCEP Review Committee. Details ▾Hide ▴
BP7 N/ABP7 under the ATM VCEP applies to synonymous variants and deep intronic variants (further than +7 at donor or -21 at acceptor sites). This is a missense variant (p.Ile2683Val), not a synonymous or deep intronic substitution. The BP7(RNA) sub-rules are also for silent substitutions and intronic variants. Details ▾Hide ▴
Evidence considered
- Missense variant
- BP7 restricted to synonymous and deep intronic variants.
Sources
Identifiers
- Gene
- ATM
- Transcript
- NM_000051.4
- Coding (HGVS c.)
- NM_000051.4:c.8047A>G
- Protein (HGVS p.)
- NP_000042.3:p.(Ile2683Val)
- GRCh38
- chr11:108335005 A>G
- GRCh37
- chr11:108205732 A>G
- ClinVar
- 453719
Gene diagram
Every interpreted variant in ATM, mapped onto the exon structure of NM_000051.4. Select a row to find it on the plot.
ATMNM_000051.4
Fetching transcript structure from UCSC…
Exons
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Transcript span
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Strand
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Variants mapped
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Source
UCSC ncbiRefSeqCurated
All variants in ATM
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Select a row to find it on the plot; use the link to open its page.
| Protein | Location | Classification | Link |
|---|
gnomAD v4.1
13 / 1,613,486 alleles
AF 8.06e-06 · 0 homozygotes · FAF 5e-06
gnomAD v2.1
2 / 251,274 alleles
AF 7.96e-06 · 0 homozygotes · FAF 2.92e-06
gnomAD-Canada v1.0
0 / 0 alleles
AF 0 · 0 homozygotes · FAF 0
By genetic ancestry
gnomAD v4.1
AF 8.1e-06 · 13 / 1,613,486 alleles · 0 hom · FAF 5e-06
| Middle Eastern1 / 6,060 | 0.00017 |
| Remaining individuals1 / 62,484 | 1.6e-05 |
| European (non-Finnish)11 / 1,179,428 | 9.3e-06 |
0 alternate alleles recorded in 7 other groups: Admixed American, European (Finnish), Amish, East Asian, South Asian, Ashkenazi Jewish, African/African American.
gnomAD v2.1
AF 8e-06 · 2 / 251,274 alleles · 0 hom · FAF 2.9e-06
| European (non-Finnish)2 / 113,606 | 1.8e-05 |
0 alternate alleles recorded in 7 other groups: African/African American, Admixed American, Ashkenazi Jewish, East Asian, European (Finnish), Remaining individuals, South Asian.
gnomAD-Canada
AF 0 · 0 / 0 alleles · 0 hom
Statements
gnomAD v4.1
This variant is present in gnomAD v4.1 (AF= 8.05709e-06; MAF= 0.00081%, 13/1613486 alleles, homozygotes = 0) and has highest observed frequency in the Middle Eastern population (AF= 0.000165017; MAF= 0.01650%, 1/6060 alleles, homozygotes = 0); grpmax FAF= 5e-06.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 7.95944e-06; MAF= 0.00080%, 2/251274 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 1.76047e-05; MAF= 0.00176%, 2/113606 alleles, homozygotes = 0); grpmax FAF= 2.92e-06.
SpliceAI and Pangolin
Other predictors
- REVEL
- 0.165
- BayesDel
- -0.312
How the predictions were used
BP4 SupportingThis missense variant has a REVEL score of 0.165, which is ≤0.249, meeting the ATM VCEP BP4 threshold for missense variants. Additionally, SpliceAI predicts no splicing impact (max delta score = 0.00, which is ≤0.1), satisfying the splicing component. The VCEP supplementary table (Suppl_TableS1, PMID 40580951) also classifies this variant as 'Functional' (combined score -0.265, High confidence). BayesDel score of -0.311657 further supports a benign computational prediction. Details ▾Hide ▴
Evidence considered
- REVEL = 0.165 (≤0.249)
- SpliceAI max delta = 0.00 (≤0.1)
- BayesDel = -0.311657
- Suppl_TableS1 classification: Functional (High confidence).
Sources
PP3 For missense variants, the ATM VCEP requires a REVEL score >0.7333 to apply PP3. The REVEL score for this variant is 0.165, which does not meet the threshold. For splicing, SpliceAI max delta score is 0.00, which does not meet the ≥0.2 threshold. BayesDel score is -0.311657, also inconsistent with a damaging prediction. Details ▾Hide ▴
Evidence considered
- REVEL = 0.165 (threshold >0.7333 not met)
- SpliceAI max delta = 0.00 (threshold ≥0.2 not met)
- BayesDel = -0.311657.
Sources
BP7 N/ABP7 under the ATM VCEP applies to synonymous variants and deep intronic variants (further than +7 at donor or -21 at acceptor sites). This is a missense variant (p.Ile2683Val), not a synonymous or deep intronic substitution. The BP7(RNA) sub-rules are also for silent substitutions and intronic variants. Details ▾Hide ▴
Evidence considered
- Missense variant
- BP7 restricted to synonymous and deep intronic variants.
Sources
Statement
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.00). REVEL score = 0.165. BayesDel score = -0.311657.
10 paper records listed. No publication is explicitly linked to an applied criterion in the recorded metadata. None of the listed paper records explicitly indicates that the variant is named.
Recorded publications
-
PMID 28779002 ↗Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.Decker B et al. · 2017No paper-specific finding is recorded.
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PMID 20301317 ↗Hereditary Ataxia Overview.Adam MP et al. · 1993No paper-specific finding is recorded.
-
PMID 20301790 ↗Ataxia-Telangiectasia.Adam MP et al. · 1993No paper-specific finding is recorded.
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PMID 24418350 ↗EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.No paper-specific finding is recorded.
-
PMID 25394175 ↗A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.Hampel H et al. · 2015No paper-specific finding is recorded.
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PMID 26389210 ↗Genetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version.PDQ Cancer Genetics Editorial Board · 2002No paper-specific finding is recorded.
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PMID 26389258 ↗Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version.PDQ Cancer Genetics Editorial Board · 2002No paper-specific finding is recorded.
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PMID 29939840 ↗Recommendations on Disease Management for Patients With Advanced Human Epidermal Growth Factor Receptor 2-Positive Breast Cancer and Brain Metastases: ASCO Clinical Practice Guideline Update.Ramakrishna N et al. · 2018No paper-specific finding is recorded.
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PMID 20050888 ↗EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.No paper-specific finding is recorded.
-
PMID 28492532 ↗Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.No paper-specific finding is recorded.
Screenshots represent source records captured during evidence collection. Select one to view the recorded source content.
gnomAD v4.1
13 / 1,613,486 recorded alleles
Open source ↗
gnomAD v2.1
Captured gnomAD v2.1 source record
Open source ↗
SpliceAI Lookup
Recorded maximum delta 0.000
Open source ↗
ClinVar
3 Uncertain significance · 1 Likely benign
Open source ↗
COSMIC
Captured COSMIC source record
Open source ↗
Cancer hotspots
Captured Cancer Hotspots source record
Open source ↗
OncoKB
Captured OncoKB source record
Open source ↗
ClinGen CSpec
Captured ClinGen CSpec source record
Open source ↗
All source links
- ClinGen CSpec ↗cspec.genome.network/cspec/ui/svi/doc/639508985
- ClinVar ↗www.ncbi.nlm.nih.gov/clinvar/variation/453719/
- gnomAD v2.1 ↗gnomad.broadinstitute.org/variant/11-108205732-A-G?dataset=gnom…
- gnomAD v4.1 ↗gnomad.broadinstitute.org/variant/chr11-108335005-A-G?dataset=g…
- SpliceAI Lookup ↗spliceailookup.broadinstitute.org/#variant=NM_000051.4%3Ac.8047…
- OncoKB ↗www.oncokb.org/gene/ATM/I2683V
- COSMIC ↗cancer.sanger.ac.uk/cosmic/search?q=ATM+c.8047A%3EG
- Cancer hotspots ↗www.cancerhotspots.org/
Statements for reports
The evidence statements recorded by the interpretation pipeline. They have not been reinterpreted by the page.
gnomAD v4.1
This variant is present in gnomAD v4.1 (AF= 8.05709e-06; MAF= 0.00081%, 13/1613486 alleles, homozygotes = 0) and has highest observed frequency in the Middle Eastern population (AF= 0.000165017; MAF= 0.01650%, 1/6060 alleles, homozygotes = 0); grpmax FAF= 5e-06.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 7.95944e-06; MAF= 0.00080%, 2/251274 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 1.76047e-05; MAF= 0.00176%, 2/113606 alleles, homozygotes = 0); grpmax FAF= 2.92e-06.
ClinVar
This variant has been reported in ClinVar as Uncertain significance (3 clinical laboratories) and as Likely benign (1 clinical laboratory). (ClinVarID = 453719)
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.00). REVEL score = 0.165. BayesDel score = -0.311657.
Functional
OncoKB did not identify variant-specific reviewed functional evidence for this variant; gene-level curated context is available for reviewer follow-up. ATM, a kinase involved in the DNA damage response, is mutated in various solid and hematologic malignancies.
Somatic
This variant does not lie in a statistically significant hotspot. This variant has not previously been reported in somatic cancers (COSMIC).
Cancer Hotspots
This variant does not lie in a statistically significant hotspot.