3 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene
    3
    1. ClingenBaseline 27 Oct 2026

      PatientID: VII-3

      KindredID: 1

      Case: M, 19Y0M, Ethnicity Unknown

      DiseaseAssertion: Asymptomatic

      FamilyInfo: 13 affected individuals in this family were found. The p.Tyr112Asn (c.334T>A) mutation of the VHL gene cosegregated with the disease in all five tested affected individuals from the family (V-5, VI-1, VI-2, VI-3, and VII-1). 7/13 have had renal cell carcinoma. Other manifestations of the disease in this family include renal cysts, retinal angioma, and CNS hemangioblastoma. There was one case of pheochromocytoma (VII-1). No other pheochromocytomas or related neuroendocrine tumors of the pancreas or adrenal gland have been diagnosed or recognized retrospectively by review of medical records and recall of relatives. The mutation was also found in three asymptomatic relatives (VII-2, VII-3, and VII-4).

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y112N (c.334T>A)

      LegacyVariant: T547A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2228, https://www.ncbi.nlm.nih.gov/clinvar/variation/2228/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: Y112N (c.334T>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:Asymptomatic Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:334 ProteinPosition:112 AminoAcidChange:TYRtoASN ClinVarID:2228 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:Y112N(c.334T>A) FamilyPedigree Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 27 Oct 2026

      PatientID: VII-2

      KindredID: 1

      Case: F, 12Y0M, Ethnicity Unknown

      DiseaseAssertion: Asymptomatic

      FamilyInfo: 13 affected individuals in this family were found. The p.Tyr112Asn (c.334T>A) mutation of the VHL gene cosegregated with the disease in all five tested affected individuals from the family (V-5, VI-1, VI-2, VI-3, and VII-1). 7/13 have had renal cell carcinoma. Other manifestations of the disease in this family include renal cysts, retinal angioma, and CNS hemangioblastoma. There was one case of pheochromocytoma (VII-1). No other pheochromocytomas or related neuroendocrine tumors of the pancreas or adrenal gland have been diagnosed or recognized retrospectively by review of medical records and recall of relatives. The mutation was also found in three asymptomatic relatives (VII-2, VII-3, and VII-4).

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y112N (c.334T>A)

      LegacyVariant: T547A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2228, https://www.ncbi.nlm.nih.gov/clinvar/variation/2228/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: Y112N (c.334T>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:Asymptomatic Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:334 ProteinPosition:112 AminoAcidChange:TYRtoASN ClinVarID:2228 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:Y112N(c.334T>A) FamilyPedigree Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    3. ClingenBaseline 27 Oct 2026

      PatientID: IV-4

      KindredID: 1

      Case: M, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Assumed VHL

      FamilyInfo: 13 affected individuals in this family were found. The p.Tyr112Asn (c.334T>A) mutation of the VHL gene cosegregated with the disease in all five tested affected individuals from the family (V-5, VI-1, VI-2, VI-3, and VII-1). 7/13 have had renal cell carcinoma. Other manifestations of the disease in this family include renal cysts, retinal angioma, and CNS hemangioblastoma. There was one case of pheochromocytoma (VII-1). No other pheochromocytomas or related neuroendocrine tumors of the pancreas or adrenal gland have been diagnosed or recognized retrospectively by review of medical records and recall of relatives. The mutation was also found in three asymptomatic relatives (VII-2, VII-3, and VII-4).

      CasePresentingHPOs: HP:0000107; HP:0010797 (Renal cyst, Hemangioblastoma)

      CaseHPOFreeText: CNS hemangioblastoma and renal cyst. Age of onset not provided. Deceased.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y112N (c.334T>A)

      LegacyVariant: T547A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2228, https://www.ncbi.nlm.nih.gov/clinvar/variation/2228/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Variant is inferred in this patient from clinical findings and family history.

      MutationType: missense_variant;transversion

      CivicName: Y112N (c.334T>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:AssumedVHL DiseaseEntity:renalcyst DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:334 ProteinPosition:112 AminoAcidChange:TYRtoASN ClinVarID:2228 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:Y112N(c.334T>A) FamilyPedigree Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/10533030/