P28A (p.Pro28Ala) variant of FLCN (Folliculin)
P28A (p.Pro28Ala) 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 1; Birt-Hogg-Du. The record also includes published literature and structural context.
P28A (p.Pro28Ala) variant details
- p.Pro28Ala
- rs749758787
- ClinGen CA288320764
- ClinVar RCV001899605
- ClinVar RCV004571462
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome 1; Birt-Hogg-Du
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)