NM_001759.3:c.389C>A (p.Ser130Tyr) in CCND2 is absent from all population databases, meeting PM2 at moderate strength.¹ No other pathogenic or benign criteria were met. PVS1 is not applicable for this missense variant. All remaining criteria are either not met, not assessed due to absence of data, or not applicable to this variant type. With a single moderate pathogenic criterion (PM2) and no supporting criteria, the variant does not reach likely pathogenic, likely benign, or benign thresholds per generic ACMG/AMP 2015 combination rules (PMID:25741868). The variant is classified as a Variant of Uncertain Significance (VUS).²