D51N (p.Asp51Asn) variant of POT1 (Q9NUX5)
D51N (p.Asp51Asn) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
D51N (p.Asp51Asn) variant details
- p.Asp51Asn
- rs1562997249
- ClinGen CA369061655
- ClinVar RCV000689791
- ClinVar RCV003994083
- Conflicting interpretations
- Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Tumor predisposition syndrome 3; Hereditary cancer-predisposing)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)
- Cited in: POT1 Tumor Predisposition. (PMID 33119245)