Y660H (p.Tyr660His) variant of DNMT3A (Q9Y6K1)
Y660H (p.Tyr660His) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Tatton-Brown-Rahman overgrowth syndrome; Acute myeloid leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
Y660H (p.Tyr660His) variant details
- p.Tyr660His
- rs1674056899
- ClinGen CA346071360
- cosmic curated COSV53056
- ClinVar RCV002226414
- Likely pathogenic
- not provided; Tatton-Brown-Rahman overgrowth syndrome; Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.95
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Tatton-Brown-Rahman overgrowth syndrome; Acute mye)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available
- Cited in: CEBPA-Associated Familial Acute Myeloid Leukemia (AML). (PMID 20963938)
- Cited in: NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. (PMID 22138009)