G15S (p.Gly15Ser) variant of FLCN (Folliculin)
G15S (p.Gly15Ser) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Birt-Hogg-Dube syndrome; Birt-Hogg-Dube syndrome 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G15S (p.Gly15Ser) variant details
- p.Gly15Ser
- rs539468848
- ClinGen CA8416535
- ClinVar RCV001022425
- ClinVar RCV001298715
- Conflicting interpretations
- Birt-Hogg-Dube syndrome; Birt-Hogg-Dube syndrome 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.90
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Birt-Hogg-Dube syndrome; Birt-Hogg-Dube syndrome 1; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 3.3e-05)
- 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)