G3E (p.Gly3Glu) variant of RAD51C (O43502)
G3E (p.Gly3Glu) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
G3E (p.Gly3Glu) variant details
- p.Gly3Glu
- rs1555591761
- ClinGen CA400336095
- ClinVar RCV000817899
- ClinVar RCV001018624
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- AlphaMissense 0.10
- MetaLR 0.04
- MetaSVM -1.06
- PolyPhen-2 0.00
- SIFT 0.20
- MutPred 0.31
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Fanconi anemia compleme)
- EBI: Likely benign (in dbSNP:rs376403182)
- UniProt: Likely benign (in dbSNP:rs376403182)
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)