D57N (p.Asp57Asn) variant of DICER1 (Endoribonuclease Dicer)
D57N (p.Asp57Asn) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; DICER1-related tumor predisposition. The record also includes published literature and structural context.
D57N (p.Asp57Asn) variant details
- p.Asp57Asn
- rs570871959
- ClinGen CA390890090
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10060
- Uncertain significance
- Hereditary cancer-predisposing syndrome; DICER1-related tumor predisposition
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; DICER1-related tumor pr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)