View Gene-Specific Information:
Last Edited by: 2026-02-04
Gene:
Chromosome:
Clinical transcript (RefSeq):
Clinical transcript (Ensembl):
Number of bases in cDNA:
Number of amino acids:
Exon/Intron Information
| Exon/Intron | Exon start (cDNA) | Exon end (cDNA) | Exon length | Intron length |
|---|
| VCEP guidance |
|---|
| CanVIG-UK review of ATM, October 2025: Consensus to use relevant recommendations from the ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ATM Version 1.4.0 (available at: https://clinicalgenome.org/affiliation/50039/). Additional points of specification are given below where applicable. Additional Note: For diagnostic analysis and reporting for cancer indications, the scope of this test indication currently includes canonical protein truncating variants and ATM c.7271T>G Val2424Gly. Please see the current UKCGG/CStAG statement on reporting practice for variants in ATM for further information (available at: https://www.cangenecanvaruk.org/canvig-uk-variant-resources) Full CanVIG-UK review available at: https://060633f9-3751-414a-94b5-69cfb74f02dd.filesusr.com/ugd/ed948a_776b085e7c87433d8a7ffdcbbb4296fa.pdf |
| LSDs |
|---|
| PVS1: NMD |
|---|
| As per VCEP |
| PVS1: Splicing |
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| As per VCEP |
| PS3/BS3: Functional assays |
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| As per VCEP |
| PM1/PP2: Constraint/Domains |
|---|
| As per VCEP |
| PP5/BP6 : Reputable source |
|---|
| As per VCEP |
| PP4/PS4: Case-control/Phenotype data) |
|---|
| As per VCEP. Per correspondence with VCEP: 15/08/2025: Where ‘Case-control studies; p-value ≤.05 AND (Odds ratio, hazard ratio, or relative risk ≥2 OR lower 95% CI≥1.5).’ is stated, the odd ratio/hazard ratio/relative risk need to be more than/equal to 2, OR the lower confidence interval is 1.5 or more. |
| PM3/BP2: Biallelic Variants |
|---|
| As per VCEP |
| PM2/BA1/BS1: Allele frequency |
|---|
| As per VCEP. Per correspondence with VCEP 30/07/2025: - If grpmax FAF ≤0.001% (regardless of n) - apply PM2_sup - If grpmax FAF not calculated (typically due to low n), look at highest ancestry AF: -- If ≤0.001% (regardless of n) apply PM2_sup -- If >0.001% but only n=1 in one population, apply PM2_sup -- Otherwise, no criteria - If grpmax FAF >0.001%, do not apply PM2_sup even if there is only one ancestry group with variant and ancestry AF is ≤0.001% |
| BP1: Missense-benign |
|---|
| As per VCEP |
| PS1/PM5: Other variants |
|---|
| As per VCEP |
| PP3/BP4: In silico |
|---|
| As per VCEP |
| PM4: Length change |
|---|
| As per VCEP |
| PP1/BS2/BS4: Segregation |
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| As per VCEP. For PP1, as per VCEP recommendations, please note PP1 may only be used for autosomal recessive conditions, not autosomal dominant. |
| PM6/PS2: De novo |
|---|
| As per VCEP |
| BP3/BP7: Synonymous/In-frame |
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| As per VCEP |
| BS2/BP5: Observed in controls/Alternative disease cause |
|---|
| As per VCEP |