Hypothesis

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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