Y12C (p.Tyr12Cys) variant of FANCC (Fanconi anemia group C protein)
Y12C (p.Tyr12Cys) 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 not provided; Hereditary cancer-predisposing syndrome; Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
Y12C (p.Tyr12Cys) variant details
- p.Tyr12Cys
- rs762884109
- ClinGen CA5137846
- ClinVar RCV000482075
- ClinVar RCV001276467
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.05
- CADD 16.50
- PolyPhen-2 0.01
- SIFT 0.22
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Fanconi a)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)