4 Matching Annotations
  1. Last 7 days
  2. onlinelibrary-wiley-com.uhn.idm.oclc.org onlinelibrary-wiley-com.uhn.idm.oclc.org
    The genomic landscape of phaeochromocytoma
    1
    1. ClingenBaseline 25 Oct 2026
      All germline mutations in VHL,

      PatientID: V-PH-29T

      KindredID: 5

      Case: F, 10Y0M, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: No familial cancers/syndromic illnesses

      CasePresentingHPOs: HP:0002666; HP:0006737; HP:0002733 (pheochromocytoma, extraadrenal pheochromocytoma, abnormality of the lymph nodes)

      CaseHPOFreeText: diagnosed with bilateral phaeochromocytoma at age 8Y, surgery at 10Y. She also had a personal history including extra adrenal abdominal phaeochromocytoma and lymph node involvement at age 8yrs

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, SDHA, SDHB, SDHC, TMEM127

      PreviouslyPublished: Possibly; 26796762 (ID: WM02)

      SupplementalData: Yes (see table S1 and S10)

      Variant: p.V84L (c.250G>C)

      LegacyVariant: Given as ENSP00000256474.2:p.Val84Leu (G>C)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 229860 https://www.ncbi.nlm.nih.gov/clinvar/variation/229860/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: V84L (c.250G>C)

      MultipleGeneVariants: Germline, MEN1, c.512G>C (p.Arg171Pro)

      InheritancePattern:AutosomalDominant DiseaseEntity:pheochromocytoma DiseaseEntity:extraadrenalpheochromocytoma DiseaseEntity:abnormalityofthelymphnodes AgeOfPresentation:pheochromocytoma:8 AgeOfPresentation:extraadrenalpheochromocytoma:8 AgeOfPresentation:abnormalityofthelymphnodes:8 ClinVarID:229860 ClinVarID:Yes ProteinPosition:84 CivicName:V84L(c.250G>C) cDNAposition:250 MutationType:missense_variant;transversion AminoAcidChange:VALtoLEU MultipleGeneVariants SupplementalData NonFamilial Mutation:Germline AssumedRefSeq:NM_000551.3 PreviousTesting:RET/SDHA/SDHB/SDHC/TMEM127 inferred_gene_hgnc:13733 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary-wiley-com.uhn.idm.oclc.org/doi/full/10.1002/path.4503
  3. erc.bioscientifica.com erc.bioscientifica.com
    Integrative analysis of miRNA and mRNA expression profiles in pheochromocytoma and paraganglioma identifies genotype-specific markers and potentially regulated pathways
    1
    1. ClingenBaseline 22 Oct 2026
      VHL_2Frozenc.250G>Tp.Val84LeuM25AdrenalPCCB

      PatientID: VHL_2 (tumor ID)

      KindredID: 2

      Case: M, 25Y0M, Ethnicity Unknown

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

      CaseHPOFreeText: The patient had a benign adrenal pheochromocytoma at 25Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V84L (c.250G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2236, https://www.ncbi.nlm.nih.gov/clinvar/variation/2236/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: V84L (c.250G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:25 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:250 ProteinPosition:84 AminoAcidChange:VALtoLEU ClinVarID:2236 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:V84L(c.250G>T) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    erc.bioscientifica.com/view/journals/erc/20/4/477.xml
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease
    2
    1. ClingenBaseline 21 Oct 2026
      family B, with pheochromocytoma only phenotype, we detected a previously not described c.463G>A/p.Val84Met replacement. Within this family, a prenatal diagnosis was also performed.

      PatientID: BII2

      KindredID: B

      Case: M, 40Y0M, Serbian

      DiseaseAssertion: VHL

      FamilyInfo: Families were selected based on their clinical data and family history. Patient’s father (BI1) had pheochromocytoma, but was not genetically tested. The patient’s son (BIII3) developed pheochromocytoma at the age of one, but progressed to bilateral pheochromocytoma 3 years later. Genetic testing revealed the same mutation in the patient and his son. In fact, a sample of amniotic fluid was taken from the patient’s wife (BII2) during the 16th week of pregnancy for prenatal testing, which was later confirmed to be the same point mutation as BII2. See pedigree in figure 1.

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: The first symptoms of pheochromocytoma appeared in the patient at age 40Y0M.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V84M (c.250G>A)

      LegacyVariant: p.V84M (c.463G>A)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 428813, https://www.ncbi.nlm.nih.gov/clinvar/variation/428813/

      CAID: N/A

      gnomAD: 0.000004376, https://gnomad.broadinstitute.org/variant/3-10183781-G-A

      VariantEvidence: N/A

      MutationType: missense variant; transition

      CivicName: V84M (c.250G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:40 CivicName:V84M(c.250G>A) cDNAPosition:250 ProteinPosition:84 AminoAcidChange:VALtoMET ClinVarID:Yes ClinVarID:428813 FamilyPedigree Familial AssumedRefSeq:AF010238.1 inferred_gene_hgnc:9949 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      family B, with pheochromocytoma only phenotype, we detected a previously not described c.463G>A/p.Val84Met replacement. Within this family, a prenatal diagnosis was also performed.

      PatientID: BII2

      KindredID: B

      Case: M, 40Y0M, Serbian

      DiseaseAssertion: VHL

      FamilyInfo: Families were selected based on their clinical data and family history. Patient’s father (BI1) had pheochromocytoma, but was not genetically tested. The patient’s son (BIII3) developed pheochromocytoma at the age of one, but progressed to bilateral pheochromocytoma 3 years later. Genetic testing revealed the same mutation in the patient and his son. In fact, a sample of amniotic fluid was taken from the patient’s wife (BII2) during the 16th week of pregnancy for prenatal testing, which was later confirmed to be the same point mutation as BII2. See pedigree in figure 1.

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: The first symptoms of pheochromocytoma appeared in the patient at age 40Y0M.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V84M (c.250G>A)

      LegacyVariant: p.V84M (c.463G>A)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 428813, https://www.ncbi.nlm.nih.gov/clinvar/variation/428813/

      CAID: N/A

      gnomAD: 0.000004376, https://gnomad.broadinstitute.org/variant/3-10183781-G-A

      VariantEvidence: N/A

      MutationType: missense variant; transition

      CivicName: V84M (c.250G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:40 CivicName:V84M(c.250G>A) cDNAPosition:250 ProteinPosition:84 AminoAcidChange:VALtoMET ClinVarID:Yes ClinVarID:428813 FamilyPedigree Familial AssumedRefSeq:AF010238.1 inferred_gene_hgnc:9949 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/17688370/