2 Matching Annotations
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  2. nyaspubs-onlinelibrary-wiley-com.uhn.idm.oclc.org nyaspubs-onlinelibrary-wiley-com.uhn.idm.oclc.org
    Familial Nonsyndromic Pheochromocytoma
    1
    1. ClingenBaseline 26 Oct 2026
      In family 4, the proband was a female who had a bilateral pheochromocytoma at the age of 46 years that recurred locally with liver metastases a few years later. Her brother had a monolateral benign pheochromocytoma. The proband also had a melanoma and bilateral renal cysts. A VHL sequence variant IVS2 +43 A>G was found in this case and also in one other unrelated sporadic pheochromocytoma. Their VHL mRNA integrity is currently being assessed. The proband had no cerebellar or spinal NMR finding or retinal alterations. Molecular analysis showed the following sequence variants: VHL IVS2 +43 A>G, RET c.2071 G>A p.G691S, SDHD c.34 G>A p.G12S, IVS2-29 A>G, c.204 C>T p.S68S, and IVS3-32 T>C.

      PatientID: 4 (proband)

      KindredID: 4

      Case: F, 46Y0M, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: Positive family history with her brother having a monolateral benign pheochromocytoma

      CasePresentingHPOs: HP:0002666; HP:0002861; HP:0000107 (pheochromocytoma; melaonoma; renal cyst)

      CaseHPOFreeText: Bilateral pheochromocytoma at the age of 46Y with a local reccurance a few years later. She also presented with liver metastases from the pheochromocytoma, as well as melanoma and bilateral renal cysts

      CaseNotHPOs: (HP:0006880; HP0009713; HP:0009711)

      CaseNotHPOFreeText: She had no cerebellar or spinal hemangiostaomasm nor retinal alterations

      CasePreviousTesting: RET/SDHB/SDHC/SDHD/EGLN3

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.463+43A>G

      LegacyVariant: IVS1+43A>G

      CaseProblemVariantFreeText: N/A

      ClinVarID: 1244574 https://www.ncbi.nlm.nih.gov/clinvar/variation/1244574/

      CAID: N/A

      gnomAD: 0.01186 https://gnomad.broadinstitute.org/variant/3-10188363-A-G

      VariantEvidence: this intronic sequence variant may have a role in VHLd because it was also detected in this study in a case of sporadic pheochromocytoma. However, this variant’s large allele frequency means this is likely non disease causing (not deleterious; polymorphism).

      MutationType: splice_site_variant; intron_variant

      CivicName: c.463+43A>G

      MultipleGeneVariants: Germline, RET, c.2071G>A (p.Gly691Ser); Germline, SDHD, c.34G>A (p.Gly12Ser); SDHD, (IVS2-29A>G); SDHD c.204C>T (p.Ser68Ser); SDHD (IVS3-32T>C)

      InheritancePattern:AutosomalDominant DiseaseEntity:pheochromocytoma DiseaseEntity:renalcyst DiseaseEntity:melaonoma Mutation:Germline AgeOfPresentation:pheochromocytoma:46 AssumedRefSeq:AF010238.1 cDNAposition:463 ClinVarID:1244574 ClinVarID:Yes MutationType:splice_site_variant PreviousTesting:RET/SDHB/SDHC/SDHD Familial MultipleGeneVariants CivicName:c.463+43A>G MutationType:intron_variant inferred_gene_hgnc:5136 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    nyaspubs-onlinelibrary-wiley-com.uhn.idm.oclc.org/doi/full/10.1196/annals.1353.015
  3. www.sciencedirect.com www.sciencedirect.com
    Sequence Variations in the von Hippel–Lindau Tumor Suppressor Gene in Patients with Intracranial Aneurysms
    1
    1. ClingenBaseline 24 Oct 2026
      c.463 + 43A > G (intron 2)

      GroupID/ KindredID: None

      DiseaseAssertion: dilatation of the cerebral artery

      GroupSize: 8

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: 8 patients are listed with this SNP mutation; any relation is unknown.

      GroupPresentingHPOs: HP:0004944 (dilatation of the cerebral artery)

      GroupHPOFreeText: All members are stated to have intracranial aneurysms. Other manifestations are possible but not clear.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.463+43A>G

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 1244574 https://www.ncbi.nlm.nih.gov/clinvar/variation/1244574/

      CAID: N/A

      gnomAD: 0.01186 https://gnomad.broadinstitute.org/variant/3-10188363-A-G

      VariantEvidence: This variant’s large allele frequency means this is likely non disease causing (not deleterious; polymorphism).

      MutationType: splice_site_variant; intron_variant

      CivicName: Splice Region (463+43A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:dilatationofthecerebralartery Mutation:Germline RefSeq:NM_000551.2 NoFamilyInfo cDNAposition:463 CivicName:SpliceRegion(463+43A>G) MutationType:splice_site_variant ExperimentalAssay ClinVarID:1244574 ClinVarID:Yes MutationType:intron_variant inferred_gene_hgnc:5136 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    sciencedirect.com/science/article/pii/S1052305713000220