T59I (p.Thr59Ile) variant of FANCC (Fanconi anemia group C protein)
T59I (p.Thr59Ile) 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 Fanconi anemia complementation group C; not provided; Hereditary cancer-predispo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
T59I (p.Thr59Ile) variant details
- p.Thr59Ile
- rs149566909
- ClinGen CA5137809
- ClinVar RCV001013091
- ClinVar RCV001213662
- Conflicting interpretations
- Fanconi anemia complementation group C; not provided; Hereditary cancer-predispo
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.05
- CADD 16.70
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Fanconi anemia complementation group C; not provided; Hereditary)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.9e-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)