Hypothesis

family A, a c.490G>T/ p.Gly93Cys

PatientID: AII2

KindredID: A

Case: F, 33Y0M, Serbian

DiseaseAssertion: VHL

FamilyInfo: Families were selected based on their clinical data and family history. Patient’s mother (AI1) had CNS hemangioblastoma. The patient’s son (AIII3) had severe arterial hypertension since 12Y0M and left pheochromocytoma was found and removed at 24Y0M. The patient’s sister (AII2) has pheochromocytoma and CNS hemangioblastoma. Genetic testing was performed on nine family members and two carried the heterozygous missense variant - current patient and her son. The patient’s mother and sister with VHL were not genetically tested. See pedigree in figure 1.

CasePresentingHPOs: HP:0002666 (pheochromocytoma)

CaseHPOFreeText: Patient was diagnosed with pheochromocytoma at 33Y0M.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.G93C (c.277G>T)

LegacyVariant: p.G93C (c.490G>T)

CaseProblemVariantFreeText: N/A

ClinVarID: 223175, https://www.ncbi.nlm.nih.gov/clinvar/variation/223175/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense variant; transversion

CivicName: G93C (c.277G>T)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transversion DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:33 CivicName:G93C(c.277G>T) cDNAPosition:277 ProteinPosition:93 AminoAcidChange:GLYtoCYS ClinVarID:Yes ClinVarID:223175 FamilyPedigree Familial AssumedRefSeq:AF010238.1 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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