G34E (p.Gly34Glu) variant of FLCN (Folliculin)
G34E (p.Gly34Glu) 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; Nonpapillary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
G34E (p.Gly34Glu) variant details
- p.Gly34Glu
- rs2047310469
- ClinGen CA398535333
- ClinVar RCV003293574
- ClinVar RCV003500827
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome 1; Nonpapillary
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.20
- CADD 5.47
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)