Hypothesis

c.533T>G p.Leu178Arg

PatientID: None (proband 10)

KindredID: 10

Case: M, 57Y0M, Chinese

DiseaseAssertion: VHL

FamilyInfo: Patient’s son was found with the same mutation, as well as RCC diagnosed at 30Y

CasePresentingHPOs: HP:0010797; HP:0009711; HP:0005584; HP:0001737 (hemangioblastoma, retinal capillary hemangioma, renal cell carcinoma, pancreatic cysts)

CaseHPOFreeText: patient had hemangioblastoma diagnosed at 39Y, as well as retinal capillary hemangioma, renal cell carcinoma and pancreatic cysts diagnose at 57Y

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.L178R (c.533T>G)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: 625261 https://www.ncbi.nlm.nih.gov/clinvar/variation/625261/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant; transversion

CivicName: L178R (c.533T>G)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Familial Ethnicity:Chinese DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticcysts AgeOfPresentation:hemangioblastoma:39 AgeOfPresentation:retinalcapillaryhemangioma:57 AgeOfPresentation:renalcellcarcinoma:57 AgeOfPresentation:pancreaticcysts:57 ClinVarID:625261 ClinVarID:Yes Mutation:Germline AssumedRefSeq:NM_000551.3 ExperimentalAssay CivicName:L178R(c.533T>G) cDNAposition:533 ProteinPosition:178 AminoAcidChange:LEUtoARG MutationType:missense_variant;transversion inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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