[Paper-level Aggregated] PMCID: PMC3260002

Evidence Type(s): Oncogenic, Predictive, Prognostic

Justification: Oncogenic: The presence of DNMT3A exon 23 mutations, particularly at the R882 codon, is associated with acute myeloid leukemia (AML), indicating a role in tumorigenesis. Predictive: The identification of specific mutations in DNMT3A may help predict the response to certain treatments in AML patients, as these mutations are known to influence disease characteristics. Prognostic: The detection of DNMT3A mutations, especially at the R882 codon, can provide information about the likely course and outcome of the disease in AML patients.

Gene→Variant (gene-first): DNMT3A(1788):R882 DNMT3A(1788):R882C DNMT3A(1788):R882H DNMT3A(1788):R882P DNMT3A(1788):W893 DNMT3A(1788):W893S

Genes: DNMT3A(1788)

Variants: R882 R882C R882H R882P W893 W893S

[Paragraph-level] PMCID: PMC3260002 Section: RESULTS PassageIndex: 3

Evidence Type(s): Diagnostic, Oncogenic

Justification: Diagnostic: The passage discusses the detection of DNMT3A exon 23 mutations in AML patients, indicating that these mutations are associated with the disease, which supports their use in defining or confirming the disease. Oncogenic: The mention of DNMT3A mutations in AML patients suggests that these somatic variants contribute to tumor development or progression, as they are identified in a cancer context.

Gene→Variant (gene-first): 1788:R882 1788:R882C 1788:R882H 1788:R882P 1788:W893 1788:W893S

Genes: 1788

Variants: R882 R882C R882H R882P W893 W893S

[Paragraph-level] PMCID: PMC3260002 Section: RESULTS PassageIndex: 3

Evidence Type(s): Diagnostic, Oncogenic

Justification: Diagnostic: The passage discusses the detection of DNMT3A exon 23 mutations in AML patients, indicating that these mutations are associated with the disease, which supports their use in defining or confirming the disease. Oncogenic: The mention of DNMT3A mutations in AML patients suggests that these somatic variants contribute to tumor development or progression, as they are identified in a cancer context.

Gene→Variant (gene-first): 1788:R882 1788:R882C 1788:R882H 1788:R882P 1788:W893 1788:W893S

Genes: 1788

Variants: R882 R882C R882H R882P W893 W893S