C10Y (p.Cys10Tyr) variant of FANCC (Fanconi anemia group C protein)
C10Y (p.Cys10Tyr) 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; Hereditary cancer-predisposing syndrome; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
C10Y (p.Cys10Tyr) variant details
- p.Cys10Tyr
- rs143152201
- ClinGen CA287205
- cosmic curated COSV56658
- ClinVar RCV000233348
- Conflicting interpretations
- Hereditary cancer; Hereditary cancer-predisposing syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.06
- CADD 17.40
- PolyPhen-2 0.21
- SIFT 0.21
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer; Hereditary cancer-predisposing syndrome; not)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- 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)