C21Y (p.Cys21Tyr) variant of FLCN (Folliculin)
C21Y (p.Cys21Tyr) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
C21Y (p.Cys21Tyr) variant details
- p.Cys21Tyr
- rs1025567379
- ClinGen CA288320819
- ClinVar RCV000804774
- ClinVar RCV001025105
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.84
- CADD 26.80
- PolyPhen-2 0.34
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.00036)
- 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)