Hypothesis

All germline mutations in VHL,

PatientID: V-PH-35T

KindredID: 6

Case: M, 39Y0M, Ethnicity Unknown

DiseaseAssertion: assumed VHL

FamilyInfo: A family history of VHL associated phenotypes was given. This patient is said to be the sibling of V-PH-34T with the germline VHL mutations: p.Arg161 ; p.Arg200Glyfs2

CasePresentingHPOs: HP:0006748; HP0010797 (adrenal pheochromocytoma, hemangioblastoma)

CaseHPOFreeText: diagnosed with right adrenal phaeochromocytoma at age 39Y, surgery the same year. He also had a personal history including hemangioblastomas, and hypertension.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: RET, SDHA, SDHB, SDHC, TMEM127

PreviouslyPublished: Likely; 26796762 (ID: RNSH09)

SupplementalData: Yes (see table S1 and S10)

Variant: p.R161* (c.481C>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: Patient given as ENSP00000256474.2:p.Arg161Ter

ClinVarID: 2217, https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: stop_gained

CivicName: R161* (c.481C>T)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant DiseaseEntity:hemangioblastoma DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:39 Familial Mutation:Germline AssumedRefSeq:NM_000551.3 SupplementalData ClinVarID:2217 ClinVarID:Yes MutationType:stop_gained ProteinPosition:161 AminoAcidChange:ARGtoTER CivicName:R161*(c.481C>T) cDNAposition:481 PreviousTesting:RET/SDHA/SDHB/SDHC/TMEM127 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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