[Paper-level Aggregated] PMCID: PMC5481739

Evidence Type(s): Functional, Oncogenic

Justification: Functional: The V716F mutation in DNMT3A is predicted to affect methyltransferase activity, indicating a functional consequence of the variant. Oncogenic: The mention of a somatic mutation in DNMT3A suggests a potential role in tumorigenesis, as it is associated with the hypermethylation and differential expression observed in renal tumors.

Gene→Variant (gene-first): DNMT3A(1788):V716F

Genes: DNMT3A(1788)

Variants: V716F

[Paragraph-level] PMCID: PMC5481739 Section: RESULTS PassageIndex: 12

Evidence Type(s): Functional, Oncogenic

Justification: Functional: The passage discusses the somatic DNMT3A-V716F mutation and its predicted effect on methyltransferase activity, indicating that the variant alters molecular function. Oncogenic: The mention of the somatic DNMT3A-V716F mutation in the context of a tumor suggests that it contributes to tumor development or progression.

Gene→Variant (gene-first): 1788:V716F

Genes: 1788

Variants: V716F

[Paragraph-level] PMCID: PMC5481739 Section: RESULTS PassageIndex: 12

Evidence Type(s): Functional, Oncogenic

Justification: Functional: The passage discusses the somatic DNMT3A-V716F mutation and its predicted effect on methyltransferase activity, indicating that the variant alters molecular function. Oncogenic: The mention of the somatic DNMT3A-V716F mutation in the context of a tumor suggests that it contributes to tumor development or progression.

Gene→Variant (gene-first): 1788:V716F

Genes: 1788

Variants: V716F