Y49C (p.Tyr49Cys) variant of FANCC (Fanconi anemia group C protein)
Y49C (p.Tyr49Cys) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided; Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
Y49C (p.Tyr49Cys) variant details
- p.Tyr49Cys
- rs761845692
- ClinGen CA5137829
- ClinVar RCV001242908
- ClinVar RCV002393630
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.35
- AlphaMissense 0.22
- MetaLR 0.31
- MetaSVM -0.41
- CADD 24.30
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Fanconi a)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00028)
- 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)