The genomic landscape of tuberous sclerosis complex
[Paper-level Aggregated] PMCID: PMC5481739
Evidence Type(s): Functional
Summary: Mutation: V716F | Summary: The DNMT3A-V716F mutation is predicted to affect methyltransferase activity, indicating a change in molecular function associated with this variant.
Gene→Variant (gene-first): DNMT3A(1788):V716F
Genes: DNMT3A(1788)
Variants: V716F
The genomic landscape of tuberous sclerosis complex
[Paper-level Aggregated] PMCID: PMC5481739
Evidence Type(s): Oncogenic
Summary: Mutation: V716F | Summary: The somatic DNMT3A-V716F mutation is implicated in tumor development due to its association with a specific methylation signature in renal tumors.
Gene→Variant (gene-first): DNMT3A(1788):V716F
Genes: DNMT3A(1788)
Variants: V716F
Our next goal was to define the molecular signatures of each TSC hamartomatous lesion type using genome-wide DNA methylation and transcript profiling. Unsupervised clustering of DNA methylation array data revealed lesion
[Paragraph-level] PMCID: PMC5481739 Section: RESULTS PassageIndex: 12
Evidence Type(s): Functional, Oncogenic
Summary: Evidence Type: Functional | Mutation: V716F | Summary: The DNMT3A-V716F mutation is predicted to affect methyltransferase activity, indicating a change in molecular function associated with this variant. Evidence Type: Oncogenic | Mutation: V716F | Summary: The somatic DNMT3A-V716F mutation is implicated in tumor development due to its association with a specific methylation signature in renal tumors.
Gene→Variant (gene-first): 1788:V716F
Genes: 1788
Variants: V716F
The genomic landscape of tuberous sclerosis complex
[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
Our next goal was to define the molecular signatures of each TSC hamartomatous lesion type using genome-wide DNA methylation and transcript profiling. Unsupervised clustering of DNA methylation array data revealed lesion
[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
Our next goal was to define the molecular signatures of each TSC hamartomatous lesion type using genome-wide DNA methylation and transcript profiling. Unsupervised clustering of DNA methylation array data revealed lesion
[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