[Paper-level Aggregated] PMCID: PMC10161095

Evidence Type(s): Functional

Summary: Mutation: lysine-to-methionine | Summary: The H3K27M mutation alters histone modifications, impacting the function of the SWI/SNF complex and leading to changes in chromatin accessibility and gene expression.

Gene→Variant (gene-first): PBRM1(55193):lysine-to-methionine

Genes: PBRM1(55193)

Variants: lysine-to-methionine

[Paper-level Aggregated] PMCID: PMC10161095

Evidence Type(s): Oncogenic

Summary: Mutation: lysine-to-methionine | Summary: The lysine-to-methionine mutation at histone H3 lysine 27 (H3K27M) is associated with the development and progression of diffuse midline gliomas, contributing to the tumor's lethal characteristics.

Gene→Variant (gene-first): PBRM1(55193):lysine-to-methionine

Genes: PBRM1(55193)

Variants: lysine-to-methionine

[Paragraph-level] PMCID: PMC10161095 Section: ABSTRACT PassageIndex: 3

Evidence Type(s): Oncogenic, Functional

Summary: Evidence Type: Oncogenic | Mutation: lysine-to-methionine | Summary: The lysine-to-methionine mutation at histone H3 lysine 27 (H3K27M) is associated with the development and progression of diffuse midline gliomas, contributing to the tumor's lethal characteristics. Evidence Type: Functional | Mutation: lysine-to-methionine | Summary: The H3K27M mutation alters histone modifications, impacting the function of the SWI/SNF complex and leading to changes in chromatin accessibility and gene expression.

Gene→Variant (gene-first): 3021:lysine 27 55193:lysine-to-methionine

Genes: 3021 55193

Variants: lysine 27 lysine-to-methionine

[Paper-level Aggregated] PMCID: PMC10161095

Evidence Type(s): Oncogenic, Functional

Justification: Oncogenic: The text describes how lysine-to-methionine mutations in histone H3 at lysine 27 (H3K27M) are associated with lethal childhood brain cancers, indicating that this variant contributes to tumorigenesis. Functional: The evidence shows that H3K27M mutations alter chromatin remodeling and affect protein levels of the SWI/SNF complex, demonstrating a functional impact on cellular processes related to cancer.

Gene→Variant (gene-first): H3-3B(3021):lysine 27 PBRM1(55193):lysine-to-methionine

Genes: H3-3B(3021) PBRM1(55193)

Variants: lysine 27 lysine-to-methionine

[Paragraph-level] PMCID: PMC10161095 Section: ABSTRACT PassageIndex: 3

Evidence Type(s): Oncogenic, Functional

Justification: Oncogenic: The passage discusses how the lysine-to-methionine mutation at lysine 27 (H3K27M) contributes to tumor development and progression in diffuse midline gliomas, indicating its role as a somatic variant in cancer. Functional: The variant alters molecular function by affecting the levels of proteins in the SWI/SNF complex and influencing chromatin modifications, demonstrating its impact on biochemical processes within the tumor cells.

Gene→Variant (gene-first): 3021:lysine 27 55193:lysine-to-methionine

Genes: 3021 55193

Variants: lysine 27 lysine-to-methionine

[Paragraph-level] PMCID: PMC10161095 Section: ABSTRACT PassageIndex: 3

Evidence Type(s): Oncogenic, Functional

Justification: Oncogenic: The passage discusses how the lysine-to-methionine mutation at lysine 27 (H3K27M) contributes to tumor development and progression in diffuse midline gliomas, indicating its role as a somatic variant in cancer. Functional: The variant alters molecular function by affecting the levels of proteins in the SWI/SNF complex and influencing chromatin modifications, demonstrating its impact on biochemical processes within the tumor cells.

Gene→Variant (gene-first): 3021:lysine 27 55193:lysine-to-methionine

Genes: 3021 55193

Variants: lysine 27 lysine-to-methionine