S26T (p.Ser26Thr) variant of FANCC (Fanconi anemia group C protein)
S26T (p.Ser26Thr) 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; Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S26T (p.Ser26Thr) variant details
- p.Ser26Thr
- rs1165230596
- ClinGen CA374340387
- ClinVar RCV001226683
- ClinVar RCV003483798
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.09
- CADD 14.50
- PolyPhen-2 0.11
- SIFT 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Fanconi anemia)
- EBI: Variant of uncertain significance (in dbSNP:rs1800361)
- UniProt: Uncertain significance (in dbSNP:rs1800361)
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)