S5L (p.Ser5Leu) variant of FANCC (Fanconi anemia group C protein)
S5L (p.Ser5Leu) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S5L (p.Ser5Leu) variant details
- p.Ser5Leu
- rs1831182314
- ClinGen CA374340521
- ClinVar RCV001761864
- ClinVar RCV002464487
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group C
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.07
- CADD 11.10
- PolyPhen-2 0.01
- SIFT 0.19
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Fanconi anemia compleme)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)