T30S (p.Thr30Ser) variant of FANCC (Fanconi anemia group C protein)
T30S (p.Thr30Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
T30S (p.Thr30Ser) variant details
- p.Thr30Ser
- rs778115754
- ClinGen CA5137839
- ClinVar RCV002376044
- ExAC rs778115754
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0907
- REVEL 0.03
- CADD 10.70
- PolyPhen-2 0.02
- SIFT 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)