R749C (p.Arg749Cys) variant of DNMT3A (Q9Y6K1)
R749C (p.Arg749Cys) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Tatton-Brown-Rahman overgrowth syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R749C (p.Arg749Cys) variant details
- p.Arg749Cys
- rs754613602
- ClinGen CA1555688
- cosmic curated COSV53037
- ClinVar RCV002651442
- Pathogenic
- Tatton-Brown-Rahman overgrowth syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic (Tatton-Brown-Rahman overgrowth syndrome; not provided)
- EBI: Pathogenic (in TBRS)
- UniProt: Pathogenic (in TBRS)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. (PMID 24614070)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)