Hypothesis

patients with VHL disease (Figs. 1 and 2, and Table 1)

PatientID: 3

KindredID: 2

Case: F, 69Y0M, Arab

DiseaseAssertion: VHL

FamilyInfo: No family history of VHL disease was described for this patient. Immediate family members were recommended to genetically test for the relevant variant or monitor for VHL-related symptoms.

CasePresentingHPOs: HP:0006770; HP:0006880; HP:0009713; HP:0000107; HP:0001737 (clear cell renal cell carcinoma; cerebellar hemangioblastoma; spinal hemangioblastoma; renal cyst; pancreatic cysts)

CaseHPOFreeText: At 63Y, Patient 3 had a left radical nephrectomy for renal cell carcinoma. She also had multiple pancreatic and right renal cysts. At 67Y, Patient 3 exhibited cerebellar and spinal hemangioblastomas, renal cell carcinoma, and cysts in kidneys and pancreas. She was diagnosed with VHL disease. Two years later, had a right radical nephrectomy for renal cell carcinoma. Her entire pancreas was covered with cysts (see table 1).

CaseNotHPOs: HP:0002088; HP:0001392; HP:0005264; HP:0001743 (abnormal lung morphology; abnormality of the liver; abnormality of the gallbladder; abnormality of the spleen)

CaseNotHPOFreeText: No lesions were observed in the lungs, liver, gallbladder, and spleen.

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.I151T (c.452T>C)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 428803, www.ncbi.nlm.nih.gov/clinvar/variation/428803/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant; transition

CivicName: I151T (c.452T>C)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Ethnicity:Arab DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:spinalhemangioblastoma DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts AgeOfPresentation:clearcellrenalcellcarcinoma:63 AgeOfPresentation:renalcyst:63 AgeOfPresentation:pancreaticcysts:63 AgeOfPresentation:spinalhemangioblastoma:67 AgeOfPresentation:cerebellarhemangioblastoma:67 AgeOfPresentation:clearcellrenalcellcarcinoma:67 AgeOfPresentation:renalcyst:67 AgeOfPresentation:pancreaticcysts:67 AgeOfPresentation:VHL:67 DiseaseEntity:pancreaticcysts:69 Mutation:Germline RefSeq:NM_000551.3 cDNAposition:452 ProteinPosition:151 AminoAcidChange:ILEtoTHR ClinVarID:428803 ClinVarID:Yes MutationType:missense_variant;transition CivicName:I151T(c.452T>C) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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