Classification rationale
PM2
BP7
VUS
NF1 c.8085A>G
The NF1 c.8085A>G (p.(Gly2695=)) variant has not been observed in somatic cancers in COSMIC and has not been reported in ClinVar.1 This variant is absent from gnomAD v2.1 and gnomAD v4.1, with an observed population frequency of 0 in both datasets, which is below the PM2 rarity threshold of 0.1%.2 This is a synonymous change, and SpliceAI predicts no significant splice impact with a maximum delta score of 0.01, which supports BP7 and argues against a predicted RNA effect.3
PM2 + BP7
→
VUS