R882C (p.Arg882Cys) variant of DNMT3A (Q9Y6K1)
R882C (p.Arg882Cys) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Tatton-Brown-Rahman overgrowth syndrome; Heyn-Sproul-Ja. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R882C (p.Arg882Cys) variant details
- p.Arg882Cys
- rs377577594
- ClinGen CA1555491
- NCI-TCGA Cosmic COSV5303
- cosmic curated COSV53036
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Tatton-Brown-Rahman overgrowth syndrome; Heyn-Sproul-Ja
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.89
- MetaLR 0.95
- MetaSVM 1.09
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Pathogenic (in TBRS and AML)
- UniProt: Pathogenic (in TBRS and AML)
- Population evidence available
- Structural context available
- Cited in: DNMT3A mutations in acute myeloid leukemia. (PMID 21067377)
- Cited in: Mutational spectrum analysis of chronic myelomonocytic leukemia includes genes associated with epigenetic regulation… (PMID 21828135)