G34R (p.Gly34Arg) variant of FLCN (Folliculin)
G34R (p.Gly34Arg) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G34R (p.Gly34Arg) variant details
- p.Gly34Arg
- rs2047310577
- ClinGen CA398535337
- ClinVar RCV001206380
- ClinVar RCV002436794
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.26
- CADD 12.60
- PolyPhen-2 0.02
- SIFT 0.54
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Birt-Hogg)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-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)