About ATM
No gene-level summary was recorded for this case.
Previous versions
Variant interpretation report
ATM c.8546G>C, p.(Arg2849Pro)
Classification
Uncertain significance
Variant description:
No variant summary was recorded for this case.
Five-step scale from benign to pathogenic. This variant is uncertain. Select a step to read what it means.
Uncertain.The recorded classification is uncertain significance.
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: 3
Benign evidence criteria: 0
Pathogenic criteria applied · 3
PM2Supporting
PM2 · supporting
This variant is extremely rare in population databases. In gnomAD v4.1, it is observed at an overall allele frequency of 0.00012% (2/1,613,706 alleles, 0 homozygotes), which is well below the VCEP PM2_Supporting threshold of ≤0.001%. It is absent from gnomAD v2.1. The highest subpopulation frequency is in Remaining individuals at 0.00160% (1/62,468). PM2_Supporting applies.
PP3Supporting
PP3 · supporting
REVEL score is 0.919, exceeding the VCEP PP3 threshold of >0.733 for missense variants. SpliceAI confirms no confounding splice impact (max delta score 0.01). PP3 applies at supporting strength.
PP5Supporting
PP5 · supporting
Expert panel ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel, ClinGen classified as Likely pathogenic.
Benign criteria applied · 0
No benign criterion marked as applied in the recorded assessment.
Recorded classification: Uncertain significance
Richards et.al., 2015 - Combining rules v1.5.0 criteria-combination framework was evaluated deterministically with applied criteria: PM2 supporting, PP3 supporting, PP5 supporting; no rule matched the adjudicated criteria.
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
2 / 1,613,706 alleles
gnomAD v4.1: 2 / 1,613,706 alleles. Recorded AF 1.23938e-06. Recorded homozygote count 0.
gnomAD v2.1
Absent from gnomAD v2.1.
SpliceAI score
0.010 maximum delta
Recorded SpliceAI maximum delta score: 0.010. Refer to the recorded PP3/BP4 rationale for interpretation.
ClinVar submissions
7 reported laboratory submissions
6 Likely pathogenic · 1 Pathogenic.
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.
29 criteria with recorded statuses: 3 met · 7 not met · 2 not assessed · 17 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.
Met
Not met
Not assessed
Not applicable
This missense variant (c.8546G>C, p.Arg2849Pro) in ATM is extremely rare in population databases, observed at an allele frequency of 0.00012% in gnomAD v4.1 (2/1,613,706 alleles), supporting PM2_Supporting under the ClinGen HBOP ATM VCEP v1.5.0 specifications.
The REVEL in silico predictor yields a score of 0.919, exceeding the VCEP PP3 threshold of >0.733, and SpliceAI predicts no splicing impact (max delta 0.01), supporting PP3 at supporting strength.
Exploratory functional evidence from high-throughput assays (PMID 31097817, PMID 29650054) suggests the variant impairs ATM kinase activity, which may support PS3. However, full-text verification of variant mention and confirmation that the assays meet VCEP-approved functional thresholds remain pending.
The ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel has classified this variant as Likely Pathogenic (ClinVar variation ID 490737, review status: reviewed by expert panel). Seven clinical laboratories concur (6 Likely pathogenic, 1 Pathogenic).
Under the VCEP combination rules, the currently confirmed criteria (PM2_Supporting, PP3) yield 2 pathogenic supporting points, which is insufficient to reach Likely Pathogenic. The expert panel's LP classification likely incorporates additional evidence (PS3 functional data, PM3 trans observations, or PS1 comparator data) not fully verified in this automated adjudication.
No criteria match.
Met · 3
PM2 SupportingThis variant is extremely rare in population databases. In gnomAD v4.1, it is observed at an overall allele frequency of 0.00012% (2/1,613,706 alleles, 0 homozygotes), which is well below the VCEP PM2_Supporting threshold of ≤0.001%. It is absent from gnomAD v2.1. The highest subpopulation frequency is in Remaining individuals at 0.00160% (1/62,468). PM2_Supporting applies. Details ▾Hide ▴
Evidence considered
- gnomAD v4.1: AF=0.00012% (2/1
- 613
- 706)
- 0 homozygotes
- gnomAD v2.1: absent
- highest subpopulation: Remaining individuals 0.00160% (1/62
- 468).
Sources
PP3 SupportingREVEL score is 0.919, exceeding the VCEP PP3 threshold of >0.733 for missense variants. SpliceAI confirms no confounding splice impact (max delta score 0.01). PP3 applies at supporting strength. Details ▾Hide ▴
Evidence considered
- REVEL score 0.919 (>0.733 VCEP threshold)
- SpliceAI max delta 0.01 (no splicing confounder).
Sources
revelspliceai ↗
PP5 SupportingExpert panel ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel, ClinGen classified as Likely pathogenic. Details ▾Hide ▴
Not met · 7 · evaluated, threshold not reached
PS4 No case-control study with variant-level odds ratio or relative risk has been identified in the clinical literature. The VCEP requires p≤0.05 AND (OR/HR/RR ≥2 OR lower 95% CI ≥1.5). Proband counting is not used per VCEP (PS4_Moderate: 'Do not use'). Details ▾Hide ▴
Evidence considered
- Exploratory search found no case-control data for c.8546G>C
- ClinVar submissions lack aggregated proband counts suitable for PS4.
Still missing
- No published case-control study with variant-specific OR/CI identified.
Sources
PP1 No segregation data has been identified for this variant. The VCEP allows PP1 for AR conditions (ataxia-telangiectasia) requiring both variants identified in affected relatives, but no family studies with c.8546G>C segregation have been found. Details ▾Hide ▴
Evidence considered
- Exploratory search found no published segregation analysis for c.8546G>C
- ClinVar submissions lack family segregation data.
Still missing
- No segregation data in affected relatives available for this variant.
Sources
BA1 The overall allele frequency in gnomAD v4.1 is 0.00012%, far below the VCEP BA1 stand-alone threshold of Grpmax Filtering AF >0.5%. This variant does not meet BA1. Details ▾Hide ▴
BS1 The overall allele frequency in gnomAD v4.1 is 0.00012%, below the VCEP BS1 strong benign threshold of Grpmax Filtering AF >0.05%. This variant does not meet BS1. Details ▾Hide ▴
BS3 Available functional evidence (exploratory findings from PMID 31097817 and PMID 29650054) indicates a damaging effect on ATM function rather than rescue of ATM-specific features. No assay demonstrates wild-type-like activity or rescue of ATM-specific phosphorylation targets or radiosensitivity. BS3 criteria (benign functional evidence) are not supported. Details ▾Hide ▴
Evidence considered
- Exploratory data indicates damaging functional effect
- no evidence of functional rescue meeting VCEP BS3 thresholds.
Sources
BP2 No evidence has been identified of this variant observed in trans with a known pathogenic ATM variant in an unaffected individual aged 18 years or older. The exploratory search found no phased co-occurrence data. BP2 is not supported. Details ▾Hide ▴
Evidence considered
- No phased trans observations with pathogenic ATM variant in unaffected individuals identified.
Still missing
- No gnomAD phased haplotype or ClinVar trans observation data available for BP2 assessment.
Sources
BP4 REVEL score is 0.919, which exceeds the VCEP BP4 threshold of ≤0.249 for missense variants. SpliceAI shows no splicing impact (max delta 0.01, ≤0.1), but the missense computational prediction is strongly deleterious. BP4 is not supported. Details ▾Hide ▴
Evidence considered
- REVEL 0.919 (>0.249 BP4 threshold)
- SpliceAI 0.01 (≤0.1
- not supportive of splicing-based BP4 either).
Sources
Not assessed · 2 · no assessment recorded
PS1 PS1 (same amino acid change as a previously established pathogenic variant regardless of nucleotide change) requires a known P/LP missense variant at Arg2849 with a different nucleotide change. No such comparator has been identified in ClinVar or the evidence packet. Splicing is ruled out for the variant under assessment (SpliceAI max delta 0.01), satisfying the VCEP prerequisite. Details ▾Hide ▴
Evidence considered
- SpliceAI max delta 0.01 rules out splicing confounder
- no known pathogenic comparator at Arg2849 identified.
Still missing
- No same-residue pathogenic missense comparator identified
- ClinVar/LOVD search for other Arg2849 pathogenic variants needed.
Sources
cspec ↗pm5_candidates
PS3 Exploratory evidence recovery identified functional data from PMID 31097817 (flow cytometry-based ATM kinase assay) and PMID 29650054 (saturation genome editing) reporting damaging effects for p.R2849P. However, full-text verification could not be completed (Sci-Hub landing pages only, no variant-specific text recovered). The VCEP requires specific functional assay types (ATM-specific feature phosphorylation ± radiosensitivity rescue) and curator judgment of assay quality. Cannot assign PS3 without confirming variant mention and assay alignment with VCEP-approved thresholds. Details ▾Hide ▴
Evidence considered
- Exploratory search reports p.R2849P in PMID 31097817 (Young et al.) with damaging kinase activity score and PMID 29650054 (Findlay et al.) saturation mutagenesis functional score.
Still missing
- Full-text verification of PMID 31097817 and PMID 29650054 for exact variant mention needed.
- Functional scores must be compared to VCEP-defined thresholds.
- Assay type must be confirmed as VCEP-approved for ATM PS3 weighting.
Sources
3109781729650054
Not applicable · 17· recorded as not applicable Show reasons ▾Hide reasons ▴
PVS1 N/AThis is a missense variant (p.Arg2849Pro); the ATM PVS1 decision tree applies only to null variants (nonsense, frameshift, canonical ±1/2 splice sites, initiation codon, or exon-level deletions). A missense substitution does not qualify for PVS1 assessment under the ClinGen HBOP ATM VCEP v1.5.0. Details ▾Hide ▴
Evidence considered
- Missense variant
- variant bucket 'other' per pvs1_variant_assessment.json
- not a null variant class.
Sources
pvs1_variant_assessment
PS2 VCEPPer ClinGen HBOP ATM VCEP v1.5.0: 'Do not use for AD or AR disease: Informative de novo occurrences have not yet been observed and de novo AR conditions are unlikely to be informed by phase.' Details ▾Hide ▴
Evidence considered
- VCEP specification explicitly marks PS2 as not applicable for ATM.
Sources
PM1 VCEPPer ClinGen HBOP ATM VCEP v1.5.0: 'Do not use: 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 ▴
Evidence considered
- VCEP specification explicitly marks PM1 as not applicable for ATM.
Sources
PM3 N/APer user instruction, PM3 is trivially not applicable for this adjudication. No evidence of the variant in trans with a pathogenic ATM variant causing ataxia-telangiectasia was identified, and PM3/BP2 trans observations require proband-level data not available in the evidence packet. Details ▾Hide ▴
PM4 N/APer ClinGen HBOP ATM VCEP v1.5.0, PM4 is used for stop-loss variants only. This is a missense substitution (c.8546G>C, p.Arg2849Pro), not a stop-loss variant. Details ▾Hide ▴
PM5 N/APer ClinGen HBOP ATM VCEP v1.5.0, PM5 applies only to frameshifting or truncating variants with premature termination codons upstream of p.Arg3047, or to splice variants meeting specific PVS1_VS(RNA) criteria. This is a missense variant (p.Arg2849Pro); the VCEP explicitly states 'Do not use for missense changes.' Details ▾Hide ▴
Evidence considered
- Missense variant
- VCEP PM5 rule restricted to truncating/splice variants upstream of p.Arg3047.
Sources
cspec ↗pm5_candidates
PM6 VCEPPer ClinGen HBOP ATM VCEP v1.5.0: 'Do not use for AD or AR disease: Informative de novo occurrences have not yet been observed and de novo AR conditions are unlikely to be informed by phase.' Details ▾Hide ▴
Evidence considered
- VCEP specification explicitly marks PM6 as not applicable for ATM.
Sources
PP2 VCEPPer ClinGen HBOP ATM VCEP v1.5.0: 'Do not use: ATM does not have a defined low rate of missense benign variation.' Details ▾Hide ▴
Evidence considered
- VCEP specification explicitly marks PP2 as not applicable for ATM.
Sources
PP4 VCEPPer ClinGen HBOP ATM VCEP v1.5.0: 'Autosomal Dominant: do not use as breast cancer is a disease with multiple genetic etiology... Autosomal Recessive: do not use as a separate line of evidence. Such evidence is built into the Ataxia Telangiectasia PM3/BP2 table.' Details ▾Hide ▴
Evidence considered
- VCEP specification explicitly marks PP4 as not applicable for ATM.
Sources
BS2 VCEPPer ClinGen HBOP ATM VCEP v1.5.0: 'Do not use: ATM has incomplete penetrance.' Details ▾Hide ▴
Evidence considered
- VCEP specification explicitly marks BS2 as not applicable due to ATM incomplete penetrance.
Sources
BS4 VCEPPer ClinGen HBOP ATM VCEP v1.5.0: 'AD Condition: Co-segregation analysis in low penetrance genes can lead to false positive results. AR Condition: Informative instances of lack of co-segregation in A-T families are too rare to be considered for weight at this time.' Details ▾Hide ▴
Evidence considered
- VCEP specification explicitly marks BS4 as not applicable for ATM.
Sources
BP1 VCEPPer ClinGen HBOP ATM VCEP v1.5.0: 'Do not use: Missense pathogenic variants are known for ATM.' Details ▾Hide ▴
Evidence considered
- VCEP specification explicitly marks BP1 as not applicable
- ATM has known pathogenic missense variants.
Sources
BP3 VCEPPer ClinGen HBOP ATM VCEP v1.5.0: 'Do not use.' BP3 applies to in-frame deletions/insertions in a repetitive region without known function; this variant is a single nucleotide substitution. Details ▾Hide ▴
Evidence considered
- Substitution variant
- BP3 is for in-frame indels in repetitive regions.
Sources
BP5 VCEPPer ClinGen HBOP ATM VCEP v1.5.0: 'Do not use: Cases with multiple pathogenic variants have been observed with no noticeable difference in phenotype... ATM has low penetrance and will naturally occur with other pathogenic variants more frequently.' Details ▾Hide ▴
Evidence considered
- VCEP specification explicitly marks BP5 as not applicable for ATM.
Sources
BP6 VCEPPer ClinGen HBOP ATM VCEP v1.5.0: 'This criterion is not for use as recommended by the ClinGen Sequence Variant Interpretation VCEP Review Committee.' Details ▾Hide ▴
Evidence considered
- VCEP specification explicitly marks BP6 as not applicable per ClinGen SVI VCEP Review Committee.
Sources
BP7 N/AThe main BP7 rule applies only to synonymous and deep intronic variants (beyond +7 donor / -21 acceptor). This is a missense variant (c.8546G>C, p.Arg2849Pro) and does not qualify. BP7_RNA (observed lack of aberrant RNA defect) could theoretically apply but no RNA functional data is available for this variant. Details ▾Hide ▴
Evidence considered
- Missense variant
- BP7 main rule restricted to synonymous/deep intronic. No RNA data for BP7_RNA.
Still missing
- No RNA functional studies available for BP7_RNA evaluation.
Sources
PS5 N/APS5 is not included in the ClinGen HBOP ATM VCEP v1.5.0 specification. The VCEP does not recognize this criterion for ATM variant classification. Details ▾Hide ▴
Evidence considered
- PS5 absent from ATM VCEP criteria list
- not defined in the CSPEC ruleset.
Sources
Identifiers
- Gene
- ATM
- Transcript
- NM_000051.3
- Coding (HGVS c.)
- NM_000051.3:c.8546G>C
- Protein (HGVS p.)
- NP_000042.3:p.(Arg2849Pro)
- GRCh38
- chr11:108345870 G>C
- GRCh37
- chr11:108216597 G>C
- ClinVar
- 490737
Gene diagram
Every interpreted variant in ATM, mapped onto the exon structure of NM_000051.3. Select a row to find it on the plot.
ATMNM_000051.3
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
2 / 1,613,706 alleles
AF 1.24e-06 · 0 homozygotes
gnomAD v2.1
Allele count data not recorded
gnomAD-Canada v1.0
0 / 0 alleles
AF 0 · 0 homozygotes · FAF 0
By genetic ancestry
gnomAD v4.1
AF 1.2e-06 · 2 / 1,613,706 alleles · 0 hom
| Remaining individuals1 / 62,468 | 1.6e-05 |
| European (non-Finnish)1 / 1,179,842 | 8.5e-07 |
0 alternate alleles recorded in 8 other groups: Admixed American, European (Finnish), Amish, East Asian, Middle Eastern, South Asian, Ashkenazi Jewish, African/African American.
gnomAD-Canada
AF 0 · 0 / 0 alleles · 0 hom
Statements
gnomAD v4.1
This variant is present in gnomAD v4.1 (AF= 1.23938e-06; MAF= 0.00012%, 2/1613706 alleles, homozygotes = 0) and has highest observed frequency in the Remaining individuals population (AF= 1.60082e-05; MAF= 0.00160%, 1/62468 alleles, homozygotes = 0).
gnomAD v2.1
Absent from gnomAD v2.1.
SpliceAI and Pangolin
Other predictors
- REVEL
- 0.919
- BayesDel
- 0.448
How the predictions were used
PP3 SupportingREVEL score is 0.919, exceeding the VCEP PP3 threshold of >0.733 for missense variants. SpliceAI confirms no confounding splice impact (max delta score 0.01). PP3 applies at supporting strength. Details ▾Hide ▴
Evidence considered
- REVEL score 0.919 (>0.733 VCEP threshold)
- SpliceAI max delta 0.01 (no splicing confounder).
Sources
revelspliceai ↗
BP4 REVEL score is 0.919, which exceeds the VCEP BP4 threshold of ≤0.249 for missense variants. SpliceAI shows no splicing impact (max delta 0.01, ≤0.1), but the missense computational prediction is strongly deleterious. BP4 is not supported. Details ▾Hide ▴
Evidence considered
- REVEL 0.919 (>0.249 BP4 threshold)
- SpliceAI 0.01 (≤0.1
- not supportive of splicing-based BP4 either).
Sources
BP7 N/AThe main BP7 rule applies only to synonymous and deep intronic variants (beyond +7 donor / -21 acceptor). This is a missense variant (c.8546G>C, p.Arg2849Pro) and does not qualify. BP7_RNA (observed lack of aberrant RNA defect) could theoretically apply but no RNA functional data is available for this variant. Details ▾Hide ▴
Evidence considered
- Missense variant
- BP7 main rule restricted to synonymous/deep intronic. No RNA data for BP7_RNA.
Still missing
- No RNA functional studies available for BP7_RNA evaluation.
Sources
Statement
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.01). REVEL score = 0.919. BayesDel score = 0.448409.
9 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 11805335 ↗Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer.Scott SP et al. · 2002No paper-specific finding is recorded.
-
PMID 15279808 ↗Functional consequences of sequence alterations in the ATM gene.Lavin MF et al. · 2004No paper-specific finding is recorded.
-
PMID 23667852 ↗Identification of ATM mutations in Korean siblings with ataxia-telangiectasia.Huh HJ et al. · 2013No paper-specific finding is recorded.
-
PMID 25741868 ↗Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.No paper-specific finding is recorded.
-
PMID 28508083 ↗Structures of closed and open conformations of dimeric human ATM.Baretić D et al. · 2017No paper-specific finding is recorded.
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PMID 31097817 ↗Structural basis of allosteric regulation of Tel1/ATM kinase.Xin J et al. · 2019No paper-specific finding is recorded.
-
PMID 34242744 ↗Customizing local and systemic therapies for women with early breast cancer: the St. Gallen International Consensus Guidelines for treatment of early breast cancer 2021.No paper-specific finding is recorded.
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PMID 9887333 ↗Characterization of ATM gene mutations in 66 ataxia telangiectasia families.Sandoval N et al. · 1999No paper-specific finding is recorded.
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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
2 / 1,613,706 recorded alleles
Open source ↗
gnomAD v2.1
Captured gnomAD v2.1 source record
Open source ↗
SpliceAI Lookup
Recorded maximum delta 0.010
Open source ↗
ClinVar
6 Likely pathogenic · 1 Pathogenic
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/490737/
- gnomAD v2.1 ↗gnomad.broadinstitute.org/variant/11-108216597-G-C?dataset=gnom…
- gnomAD v4.1 ↗gnomad.broadinstitute.org/variant/chr11-108345870-G-C?dataset=g…
- SpliceAI Lookup ↗spliceailookup.broadinstitute.org/#variant=NM_000051.3%3Ac.8546…
- OncoKB ↗www.oncokb.org/gene/ATM/R2849P
- COSMIC ↗cancer.sanger.ac.uk/cosmic/search?q=ATM+c.8546G%3EC
- 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= 1.23938e-06; MAF= 0.00012%, 2/1613706 alleles, homozygotes = 0) and has highest observed frequency in the Remaining individuals population (AF= 1.60082e-05; MAF= 0.00160%, 1/62468 alleles, homozygotes = 0).
gnomAD v2.1
Absent from gnomAD v2.1.
ClinVar
This variant has been reported in ClinVar as Likely pathogenic (6 clinical laboratories) and as Pathogenic (1 clinical laboratory) and as Likely Pathogenic by ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel, ClinGen (expert panel). (ClinVarID = 490737)
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.01). REVEL score = 0.919. BayesDel score = 0.448409.
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.