[Paper-level Aggregated] PMCID: PMC6173734

Evidence Type(s): Oncogenic

Summary: Mutation: c.422G>A; p.Cys141Tyr | Summary: The TP53 missense variant c.422G>A (p.Cys141Tyr) is described as pathogenic and contributes to tumor development or progression, indicating its oncogenic potential.

Gene→Variant (gene-first): TP53(7157):c.422G>A TP53(7157):p.Cys141Tyr

Genes: TP53(7157)

Variants: c.422G>A p.Cys141Tyr

[Paragraph-level] PMCID: PMC6173734 Section: RESULTS PassageIndex: 2

Evidence Type(s): Oncogenic

Summary: Evidence Type: Oncogenic | Mutation: c.422G>A; p.Cys141Tyr | Summary: The TP53 missense variant c.422G>A (p.Cys141Tyr) is described as pathogenic and contributes to tumor development or progression, indicating its oncogenic potential.

Gene→Variant (gene-first): 7157:c.422G>A 7157:p.Cys141Tyr

Genes: 7157

Variants: c.422G>A p.Cys141Tyr

[Paper-level Aggregated] PMCID: PMC6173734

Evidence Type(s): Oncogenic, Functional

Justification: Oncogenic: The text mentions a pathogenic TP53 missense variant c.422G>A (p.Cys141Tyr), indicating that this variant is associated with tumorigenesis and is likely to contribute to cancer development. Functional: The presence of the pathogenic TP53 variant suggests that it may affect the function of the TP53 protein, which is critical for regulating the cell cycle and preventing tumor formation.

Gene→Variant (gene-first): TP53(7157):c.422G>A TP53(7157):p.Cys141Tyr

Genes: TP53(7157)

Variants: c.422G>A p.Cys141Tyr

[Paragraph-level] PMCID: PMC6173734 Section: RESULTS PassageIndex: 2

Evidence Type(s): Oncogenic

Justification: Oncogenic: The passage describes a pathogenic TP53 missense variant c.422G>A (p.Cys141Tyr) in the context of tumor development, indicating its contribution to tumor progression through the loss of heterozygosity and clonal biallelic loss of TP53.

Gene→Variant (gene-first): 7157:c.422G>A 7157:p.Cys141Tyr

Genes: 7157

Variants: c.422G>A p.Cys141Tyr