I4M (p.Ile4Met) variant of FLCN (Folliculin)
I4M (p.Ile4Met) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome; Birt-Hogg-Dube. The record also includes published literature and structural context.
I4M (p.Ile4Met) variant details
- p.Ile4Met
- rs752123350
- ClinGen CA398535511
- ClinVar RCV003293575
- ClinVar RCV004572905
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome; Birt-Hogg-Dube
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Birt-Hogg-Dubé Syndrome. (PMID 20301695)
- Cited in: Canadian guideline on genetic screening for hereditary renal cell cancers. (PMID 24319509)