Q842R (p.Gln842Arg) variant of DNMT3A (Q9Y6K1)
Q842R (p.Gln842Arg) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Acute myeloid leukemia; Tatton-Brown-Rahman overgrowth syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
Q842R (p.Gln842Arg) variant details
- p.Gln842Arg
- rs771174392
- ClinGen CA1555542
- cosmic curated COSV53042
- ClinVar RCV000760250
- Likely pathogenic
- Acute myeloid leukemia; Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.82
- MetaLR 0.92
- MetaSVM 1.02
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Likely pathogenic (Acute myeloid leukemia; Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)