NM_181523.2:c.2079A>T (p.Glu693Asp) is a missense variant in PIK3R1 that is absent from gnomAD v4.1, meeting PM2_Supporting under the ClinGen Antibody Deficiencies VCEP specifications (AF < 0.00000132).¹ The variant does not meet PP3 (REVEL 0.467 < 0.644 threshold) or BP4 (REVEL 0.467 > 0.290 threshold). SpliceAI predicts no splice impact (max delta = 0.00).² No variant-specific functional data, de novo reports, co-segregation data, or proband phenotype data are available. The variant is absent from ClinVar and has not been reported in the literature.³ PVS1, PS1, PS2, PS3, PS4, PP1, PP3, PP4, BA1, BS1, BS3, BS4, BP4, BP5, and BP7 are not met. PM1, PM5, PM6 (use PS2 instead), PP2, PP5, BS2, BP1, BP2, and BP6 are not applicable under VCEP specifications.⁴ Total Bayesian points: +1 (PM2_Supporting). Under the Tavtigian et al. 2020 point scale adopted by the Antibody Deficiencies VCEP, 0–5 points corresponds to a classification of Uncertain Significance.⁵