[Paper-level Aggregated] PMCID: PMC4320693

Evidence Type(s): Diagnostic

Summary: Mutation: p.His1047Arg | Summary: The p.His1047Arg (H1047R) mutation is associated with a significant proportion of patients and is linked to phenotypes such as FAO, Hemihyperplasia- Multiple Lipomatosis (HHML), or macrodactyly, indicating its potential role in defining or classifying these conditions.

Evidence Type: Diagnostic Mutation: p.His1047Leu | Summary: The p.His1047Leu (H1047L) mutation is present in a notable percentage of patients and is linked to phenotypes consistent with FAO, Hemihyperplasia- Multiple Lipomatosis (HHML), or macrodactyly, suggesting its relevance in the diagnosis or classification of these conditions.

Evidence Type: Diagnostic Mutation: p.Glu545Lys | Summary: The p.Glu545Lys (E545K) mutation is found in a smaller subset of patients and is associated with the CLOVES syndrome phenotype, supporting its role in defining or classifying this condition.

Evidence Type: Diagnostic Mutation: p.Glu542Lys | Summary: The p.Glu542Lys (E542K) mutation occurs in a minority of patients and is found in individuals with phenotypes consistent with CLOVES syndrome, indicating its potential use in the diagnosis or classification of this condition.

Evidence Type: Diagnostic Mutation: p.Cys420Arg | Summary: The p.Cys420Arg (C420R) mutation, although less common, is identified in patients with CLOVES syndrome, indicating its relevance in defining or classifying this condition.

Gene→Variant (gene-first): PIK3CA(5290):p.His1047Arg PIK3CA(5290):p.His1047Leu PIK3CA(5290):p.Glu545Lys PIK3CA(5290):p.Glu542Lys PIK3CA(5290):p.Cys420Arg

Genes: PIK3CA(5290)

Variants: p.His1047Arg p.His1047Leu p.Glu545Lys p.Glu542Lys p.Cys420Arg

[Paragraph-level] PMCID: PMC4320693 Section: RESULTS PassageIndex: 4

Evidence Type(s): Diagnostic

Summary: Evidence Type: Diagnostic | Mutation: p.His1047Arg | Summary: The mutation p.His1047Arg is associated with phenotypes such as FAO, Hemihyperplasia- Multiple Lipomatosis (HHML), or macrodactyly, indicating its role in defining or classifying these conditions. Evidence Type: Diagnostic | Mutation: p.His1047Leu | Summary: The mutation p.His1047Leu is linked to phenotypes consistent with FAO, Hemihyperplasia- Multiple Lipomatosis (HHML), or macrodactyly, suggesting its use in disease classification. Evidence Type: Diagnostic | Mutation: p.Glu542Lys | Summary: The mutation p.Glu542Lys is found in patients with phenotypes consistent with CLOVES syndrome, indicating its role in defining or classifying this condition. Evidence Type: Diagnostic | Mutation: p.Glu545Lys | Summary: The mutation p.Glu545Lys is associated with the CLOVES syndrome phenotype, supporting its use in disease classification. Evidence Type: Diagnostic | Mutation: p.Cys420Arg | Summary: The mutation p.Cys420Arg is identified in patients with CLOVES syndrome, indicating its relevance in defining or classifying this condition.

Gene→Variant (gene-first): 5290:p.Cys420Arg 5290:p.Glu542Lys 5290:p.Glu545Lys 5290:p.His1047Arg 5290:p.His1047Leu

Genes: 5290

Variants: p.Cys420Arg p.Glu542Lys p.Glu545Lys p.His1047Arg p.His1047Leu

[Paragraph-level] PMCID: PMC4320693 Section: RESULTS PassageIndex: 3

Evidence Type(s): Diagnostic

Summary: Evidence Type: Diagnostic | Mutation: p.His1047Arg | Summary: The p.His1047Arg (H1047R) mutation is associated with a significant proportion of patients, indicating its potential role in defining or classifying a disease or subtype. Evidence Type: Diagnostic | Mutation: p.His1047Leu | Summary: The p.His1047Leu (H1047L) mutation is present in a notable percentage of patients, suggesting its relevance in the diagnosis or classification of a disease or subtype. Evidence Type: Diagnostic | Mutation: p.Glu545Lys | Summary: The p.Glu545Lys (E545K) mutation is found in a smaller subset of patients, which may indicate its role in defining or classifying a disease or subtype. Evidence Type: Diagnostic | Mutation: p.Glu542Lys | Summary: The p.Glu542Lys (E542K) mutation occurs in a minority of patients, suggesting its potential use in the diagnosis or classification of a disease or subtype. Evidence Type: Diagnostic | Mutation: p.Cys420Arg | Summary: The p.Cys420Arg (C420R) mutation, although less common, may still play a role in defining or classifying a disease or subtype based on its occurrence in patients.

Gene→Variant (gene-first): 5290:C420R 5290:E542K 5290:E545K 5290:H1047L 5290:H1047R 5290:p.Cys420Arg 5290:p.Glu542Lys 5290:p.Glu545Lys 5290:p.His1047Arg 5290:p.His1047Leu

Genes: 5290

Variants: C420R E542K E545K H1047L H1047R p.Cys420Arg p.Glu542Lys p.Glu545Lys p.His1047Arg p.His1047Leu

[Paper-level Aggregated] PMCID: PMC4320693

Evidence Type(s): Oncogenic, Prognostic

Justification: Oncogenic: The passage indicates that specific mutations, particularly p.His1047Arg and p.His1047Leu, are associated with distinct phenotypes in a significant proportion of patients, suggesting their role in tumorigenesis. Prognostic: The correlation of specific mutations with phenotypes such as FAO, HHML, and CLOVES syndrome implies that these mutations may provide prognostic information regarding disease manifestation and patient outcomes.

Gene→Variant (gene-first): PIK3CA(5290):C420R PIK3CA(5290):E542K PIK3CA(5290):E545K PIK3CA(5290):H1047L PIK3CA(5290):H1047R PIK3CA(5290):p.Cys420Arg PIK3CA(5290):p.Glu542Lys PIK3CA(5290):p.Glu545Lys PIK3CA(5290):p.His1047Arg PIK3CA(5290):p.His1047Leu

Genes: PIK3CA(5290)

Variants: C420R E542K E545K H1047L H1047R p.Cys420Arg p.Glu542Lys p.Glu545Lys p.His1047Arg p.His1047Leu

[Paragraph-level] PMCID: PMC4320693 Section: RESULTS PassageIndex: 4

Evidence Type(s): Diagnostic, Oncogenic

Justification: Diagnostic: The passage discusses the correlation of specific genotypes with phenotypes, indicating that the variants are associated with defining or classifying certain conditions such as FAO, HHML, or CLOVES syndrome. Oncogenic: The variants mentioned are associated with specific phenotypes that suggest a role in tumor development or progression, particularly in the context of CLOVES syndrome and other related conditions.

Gene→Variant (gene-first): 5290:p.Cys420Arg 5290:p.Glu542Lys 5290:p.Glu545Lys 5290:p.His1047Arg 5290:p.His1047Leu

Genes: 5290

Variants: p.Cys420Arg p.Glu542Lys p.Glu545Lys p.His1047Arg p.His1047Leu

[Paragraph-level] PMCID: PMC4320693 Section: RESULTS PassageIndex: 3

Evidence Type(s): Diagnostic, Oncogenic

Justification: Diagnostic: The passage discusses the frequency of specific mutations in patients, indicating their association with a disease or subtype. Oncogenic: The variants mentioned are likely somatic mutations that contribute to tumor development, as they are described in the context of patient mutations.

Gene→Variant (gene-first): 5290:C420R 5290:E542K 5290:E545K 5290:H1047L 5290:H1047R 5290:p.Cys420Arg 5290:p.Glu542Lys 5290:p.Glu545Lys 5290:p.His1047Arg 5290:p.His1047Leu

Genes: 5290

Variants: C420R E542K E545K H1047L H1047R p.Cys420Arg p.Glu542Lys p.Glu545Lys p.His1047Arg p.His1047Leu