S3N (p.Ser3Asn) variant of DICER1 (Endoribonuclease Dicer)
S3N (p.Ser3Asn) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of DICER1-related tumor predisposition; Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
S3N (p.Ser3Asn) variant details
- p.Ser3Asn
- rs1894132373
- ClinGen CA390890840
- ClinVar RCV001046359
- ClinVar RCV002372797
- Conflicting interpretations
- DICER1-related tumor predisposition; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Conflicting classifications of pathogenicity (DICER1-related tumor predisposition; Hereditary cancer-predispos)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)