This variant is a missense substitution (c.8047A>G, p.Ile2683Val) in ATM, assessed under the ClinGen HBOP VCEP v1.5.0 framework.¹ 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).² 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.³ No functional assay data (kinase activity or radiosensitivity rescue) are available for this variant, so PS3 and BS3 cannot be assessed.⁴ No case-control studies, segregation data, or trans/homozygous observations in unaffected individuals were identified, leaving PS4, PP1, and BP2 unassessed.⁵ ClinVar lists this variant as Uncertain significance (3 clinical laboratories) and Likely benign (1 clinical laboratory) with no expert panel submissions.⁶ 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 31.⁷