NM_000455.5:c.734+17C>G is an intronic variant in STK11 at position +17 of intron 5. No CSPEC/VCEP framework exists for STK11; classification follows generic ACMG/AMP 2015 rules (PMID:25741868).
This variant is present at extremely low frequency in population databases: gnomAD v2.1 allele frequency 0.00227% (6/264,478 alleles) and gnomAD v4.1 allele frequency 0.00187% (30/1,600,552 alleles), with no homozygotes observed (PM2_Supporting).
gnomad_v2 ↗ gnomad_v4 ↗SpliceAI predicts no significant splicing impact (max delta score = 0.01), and multiple lines of computational evidence suggest no effect on gene product or splicing (BP4_Supporting).
spliceai ↗This variant has been independently classified as Likely benign by 4 clinical laboratories and Benign by 2 clinical laboratories in ClinVar (Variation ID 379077), all with criteria provided (BP6_Supporting).
clinvar ↗No functional studies, de novo observations, segregation data, or case-control data were identified for this specific variant in the available literature. The 15 PubMed-indexed references associated with this ClinVar entry are practice guidelines and review articles that do not mention NM_000455.5:c.734+17C>G.
Applying generic ACMG/AMP 2015 final combination rules: 1 supporting pathogenic criterion (PM2_Supporting) and 2 supporting benign criteria (BP4_Supporting, BP6_Supporting). With ≥2 supporting benign criteria, this variant is classified as Likely Benign.
