T22M (p.Thr22Met) variant of FLCN (Folliculin)
T22M (p.Thr22Met) 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 1; Hereditary cancer-predisposing syndrome; not specifie. 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.
T22M (p.Thr22Met) variant details
- p.Thr22Met
- rs768734584
- ClinGen CA8416529
- cosmic curated COSV53263
- ClinVar RCV000456284
- Conflicting interpretations
- Birt-Hogg-Dube syndrome 1; Hereditary cancer-predisposing syndrome; not specifie
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.94
- CADD 27.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Birt-Hogg-Dube syndrome 1; Hereditary cancer-predisposing syndro)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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)