NM_000051.4:c.7835G>A (p.Arg2612Lys) is a missense variant in ATM, a gene where loss of function is an established mechanism for ataxia telangiectasia (autosomal recessive) and ATM-related cancer predisposition (autosomal dominant). The variant is absent from gnomAD v4.1 and present at extremely low frequency in gnomAD v2.1 (1/250,772 alleles, NFE only).¹ PM2_Supporting is met: the variant frequency (absent from gnomAD v4.1) satisfies the VCEP threshold of ≤0.001%.² BP4_Supporting is met: REVEL score of 0.086 is ≤0.249, SpliceAI max delta of 0.0 is ≤0.1, and BayesDel score of −0.523 is in the benign range. Multiple computational tools consistently predict a neutral effect.³ No functional data (PS3/BS3), segregation data (PP1), case-control data (PS4), or variant-specific publications were identified for this variant. OncoKB reports unknown oncogenic effect, and the VCEP supplementary functional tables do not include p.Arg2612Lys.⁴ This variant has been reported in ClinVar as Uncertain significance by two clinical laboratories and as Likely benign by one clinical laboratory (Variation ID 407542). No expert panel classification is available.⁵ Under the ClinGen HBOP ATM VCEP v1.5 combination rules, PM2_Supporting (1 pathogenic supporting) and BP4_Supporting (1 benign supporting) together trigger Rule 31: Uncertain Significance — Conflicting Evidence.⁶