N35S (p.Asn35Ser) variant of FLCN (Folliculin)
N35S (p.Asn35Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
N35S (p.Asn35Ser) variant details
- p.Asn35Ser
- rs2047310284
- ClinGen CA398535327
- ClinVar RCV001246782
- ClinVar RCV002402785
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.21
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-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)