[Paper-level Aggregated] PMCID: PMC7211323

Evidence Type(s): Functional

Summary: Mutation: c.285delA | Summary: The mutation c.285delA results in no detectable protein band, indicating that it alters the molecular function of the ACVR2A gene product, likely leading to degradation through nonsense-mediated decay.

Evidence Type: Functional Mutation: 1310AA | Summary: The mutation 1310AA is associated with the production of truncated ACVR2A protein, suggesting that it alters the molecular function of the ACVR2A gene product.

Gene→Variant (gene-first): ACVR2A(92):c.285delA ACVR2A(92):1310AA

Genes: ACVR2A(92)

Variants: c.285delA 1310AA

[Paper-level Aggregated] PMCID: PMC7211323

Evidence Type(s): Oncogenic

Summary: Mutation: 1310delA | Summary: The mutation 1310delA is identified as a hotspot mutation in the ACVR2A gene, contributing to tumor development in gastric cancer patients.

Evidence Type: Oncogenic Mutation: c.1309-1310delAA | Summary: The mutation c.1309-1310delAA is a hotspot mutation in the ACVR2A gene, associated with tumor progression in gastric cancer.

Evidence Type: Oncogenic Mutation: c.285delA | Summary: The mutation c.285delA is recognized as a hotspot mutation in the ACVR2A gene, playing a role in the development of gastric cancer.

Evidence Type: Oncogenic Mutation: p. D96Tfs54 | Summary: The mutation p. D96Tfs54 is a frameshift mutation in the ACVR2A gene, contributing to oncogenic processes in gastric cancer.

Gene→Variant (gene-first): ACVR2A(92):1310delA ACVR2A(92):c.1309-1310delAA ACVR2A(92):c.285delA ACVR2A(92):p. D96Tfs*54

Genes: ACVR2A(92)

Variants: 1310delA c.1309-1310delAA c.285delA p. D96Tfs*54

[Paper-level Aggregated] PMCID: PMC7211323

Evidence Type(s): Diagnostic

Summary: Mutation: 1309-1310delAA | Summary: The mutation 1309-1310delAA is associated with the MSI-H subtype of gastric cancers, indicating its role in classifying the disease.

Evidence Type: Diagnostic Mutation: c.1310delA | Summary: The mutation c.1310delA is linked to the MSI-H subtype of gastric cancers, supporting its use in disease classification.

Evidence Type: Diagnostic Mutation: c.285delA | Summary: The mutation c.285delA is associated with the MSI-H subtype of gastric cancers, indicating its relevance in disease classification.

Gene→Variant (gene-first): ACVR2A(92):1309-1310delAA ACVR2A(92):c.1310delA ACVR2A(92):c.285delA

Genes: ACVR2A(92)

Variants: 1309-1310delAA c.1310delA c.285delA

[Paragraph-level] PMCID: PMC7211323 Section: RESULTS PassageIndex: 11

Evidence Type(s): Functional

Summary: Evidence Type: Functional | Mutation: c.285delA | Summary: The mutation c.285delA results in no detectable protein band, indicating that it alters the molecular function of the ACVR2A gene product, likely leading to degradation through nonsense-mediated decay. Evidence Type: Functional | Mutation: 1310AA | Summary: The mutation 1310AA is associated with the production of truncated ACVR2A protein, suggesting that it alters the molecular function of the ACVR2A gene product.

Gene→Variant (gene-first): 92:1310AA 92:c.285delA

Genes: 92

Variants: 1310AA c.285delA

[Paragraph-level] PMCID: PMC7211323 Section: RESULTS PassageIndex: 9

Evidence Type(s): Oncogenic

Summary: Evidence Type: Oncogenic | Mutation: 1310delA | Summary: The mutation 1310delA is identified as a hotspot mutation in the ACVR2A gene, contributing to tumor development in gastric cancer patients. Evidence Type: Oncogenic | Mutation: c.1309-1310delAA | Summary: The mutation c.1309-1310delAA is a hotspot mutation in the ACVR2A gene, associated with tumor progression in gastric cancer. Evidence Type: Oncogenic | Mutation: c.285delA | Summary: The mutation c.285delA is recognized as a hotspot mutation in the ACVR2A gene, playing a role in the development of gastric cancer. Evidence Type: Oncogenic | Mutation: p. D96Tfs54 | Summary: The mutation p. D96Tfs54 is a frameshift mutation in the ACVR2A gene, contributing to oncogenic processes in gastric cancer.

Gene→Variant (gene-first): 92:1310delA 92:c.1309-1310delAA 92:c.285delA 92:p. D96Tfs*54

Genes: 92

Variants: 1310delA c.1309-1310delAA c.285delA p. D96Tfs*54

[Paragraph-level] PMCID: PMC7211323 Section: RESULTS PassageIndex: 3

Evidence Type(s): Diagnostic

Summary: Evidence Type: Diagnostic | Mutation: 1309-1310delAA | Summary: The mutation 1309-1310delAA is associated with the MSI-H subtype of gastric cancers, indicating its role in classifying the disease. Evidence Type: Diagnostic | Mutation: c.1310delA | Summary: The mutation c.1310delA is linked to the MSI-H subtype of gastric cancers, supporting its use in disease classification. Evidence Type: Diagnostic | Mutation: c.285delA | Summary: The mutation c.285delA is associated with the MSI-H subtype of gastric cancers, indicating its relevance in disease classification.

Gene→Variant (gene-first): 92:1309-1310delAA 92:c.1310delA 92:c.285delA

Genes: 92

Variants: 1309-1310delAA c.1310delA c.285delA

[Paper-level Aggregated] PMCID: PMC7211323

Evidence Type(s): Oncogenic, Functional, Predictive

Justification: Oncogenic: The text indicates that mutations in the ACVR2A gene, particularly c.1309-1310delAA and c.285delA, are associated with a high mutation frequency and are prevalent in MSI-H gastric cancers, suggesting a role in tumorigenesis. Functional: The in vitro experiments demonstrate that ACVR2A mutations lead to altered protein expression and stability, indicating that these mutations have functional consequences on the gene product. Predictive: The association of ACVR2A mutations with MSI-H status suggests that these mutations could predict the microsatellite instability phenotype in gastric cancer patients.

Gene→Variant (gene-first): ACVR2A(92):1309-1310delAA ACVR2A(92):c.1310delA ACVR2A(92):c.285delA ACVR2A(92):1310AA ACVR2A(92):1310delA ACVR2A(92):c.1309-1310delAA ACVR2A(92):p. D96Tfs*54

Genes: ACVR2A(92)

Variants: 1309-1310delAA c.1310delA c.285delA 1310AA 1310delA c.1309-1310delAA p. D96Tfs*54

[Paragraph-level] PMCID: PMC7211323 Section: RESULTS PassageIndex: 11

Evidence Type(s): Functional, Oncogenic

Justification: Functional: The passage discusses how the ACVR2A variants (including c.285delA) affect the expression and stability of the ACVR2A protein, indicating that these variants alter molecular function. Oncogenic: The context of the study involves the role of ACVR2A mutations in gastric cancer (GC) cell lines, suggesting that these somatic variants may contribute to tumor development or progression.

Gene→Variant (gene-first): 92:1310AA 92:c.285delA

Genes: 92

Variants: 1310AA c.285delA

[Paragraph-level] PMCID: PMC7211323 Section: RESULTS PassageIndex: 9

Evidence Type(s): Diagnostic, Oncogenic

Justification: Diagnostic: The passage discusses the mutation rate of ACVR2A in a specific population and identifies specific mutations as frequent occurrences in gastric cancer patients, indicating their association with the disease. Oncogenic: The passage describes nonsynonymous mutations in the ACVR2A gene that lead to protein changes, specifically mentioning frameshift truncating mutations, which contribute to tumor development in gastric cancer.

Gene→Variant (gene-first): 92:1310delA 92:c.1309-1310delAA 92:c.285delA 92:p. D96Tfs*54

Genes: 92

Variants: 1310delA c.1309-1310delAA c.285delA p. D96Tfs*54

[Paragraph-level] PMCID: PMC7211323 Section: RESULTS PassageIndex: 3

Evidence Type(s): Diagnostic, Oncogenic

Justification: Diagnostic: The passage discusses the association of specific mutations (c.1310delA, 1309-1310delAA, c.285delA) with the MSI-H subtype of gastric cancers, indicating their role in defining or classifying the disease. Oncogenic: The variants mentioned are associated with a high mutation frequency and a high MSI score, suggesting their contribution to tumor development or progression in gastric cancer.

Gene→Variant (gene-first): 92:1309-1310delAA 92:c.1310delA 92:c.285delA

Genes: 92

Variants: 1309-1310delAA c.1310delA c.285delA