C10G (p.Cys10Gly) variant of FANCC (Fanconi anemia group C protein)
C10G (p.Cys10Gly) 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; not specified; not provided. 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.
C10G (p.Cys10Gly) variant details
- p.Cys10Gly
- rs147479204
- ClinGen CA339141
- cosmic curated COSV10461
- ClinVar RCV000200177
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.03
- CADD 18.50
- PolyPhen-2 0.01
- SIFT 0.53
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not specified; not prov)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)