Table 3.
Heterozygous FLCN variants identified on clinically accredited diagnostic testing.
| Gene and transcript | Variant | ACMG classification | Exon/description |
|---|---|---|---|
| FLCN NM_144997.5 | c.249+1_2delGCinsA | Pathogenic | Exon 5 (intronic) 125 bp deletion, canonical splice site |
| FLCN NM_144997.5 | c.384C>G, p.Ser128Arg | VUS | Exon 5 missense |
| FLCN NM_144997.5 | c.469_471delTTC, p. Phe157del | Likely pathogenic | Exon 6, in-frame deletion |
| FLCN NM_144997.5 | c.763C>T, pHis255Tyr | Likely pathogenic | Exon 7, missense |
| FLCN NM_144997.5 | c.1157C>G, p. Ser386* | Pathogenic | Exon 11, nonsense |
| FLCN NM_144997.5 | c.1177-5_1177-3-del | Pathogenic | Exon 11, intronic deletion of 3 bp close to conserved splicing acceptor site of exon 11, frameshift cause premature stope codon |
| FLCN NM_144997.5 | c.1285dupC, p. His249Profs*27 | Pathogenic | Exon 11, 1 bp duplication, frameshift (nonsense) |
| FLCN NM_144997.5 | c.1318_1334dup, p.Leu449Glnfs*25 | Pathogenic | Exon12, 17 bp duplication, frameshift, nonsense |
| FLCN NM_144997.5 | c.1333G>A, p.Ala445Thr | VUS | Exon 12, missense |
*This is standard HGVS amino acid nomenclature for a nonsense substitution variant.