Hypothesis

II 8 53 2 pheo (8 years) 2 CNS hb (12 + 13 years) 2 retinal hb (8 + 12 years) M c.496G > T (p.Val166Phe)

PatientID: II

KindredID: 15

Case: Sex Unknown, 53Y0M, Danish

DiseaseAssertion: VHL

FamilyInfo: 2 other family members presented with the same VHL variant. Patient 15-I was asymptomatic. Patient 15-III presented with 2 pheochromocytoma (15Y).

CasePresentingHPOs: HP:0002666; HP:0010797; HP:0009711 (Pheochromocytoma, Hemangioblastoma, Retinal capillary hemangioma)

CaseHPOFreeText: Diagnosed with VHL at age 8Y. Presented with 2 pheochromocytoma (8Y) 2 CNS hb (12Y and 13Y) and 2 retinal hemangioblastomas (8Y, 12Y). Age at the end of study: 53Y.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.V166F (c.496G>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 2224, https://www.ncbi.nlm.nih.gov/clinvar/variation/2224/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: V166F (c.496G>T)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Ethnicity:Danish DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:pheochromocytoma AgeOfPresentation:hemangioblastoma:12 AgeOfPresentation:hemangioblastoma:13 AgeOfPresentation:retinalcapillaryhemangioma:8 AgeOfPresentation:retinalcapillaryhemangioma:12 AgeOfPresentation:pheochromocytoma:8 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:496 ProteinPosition:166 AminoAcidChange:VALtoPHE ClinVarID:2224 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:V166F(c.496G>T) Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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