Hypothesis

c.499C>T p.Arg167Trp

PatientID: II:4 (proband 5’s sister 2)

KindredID: 5

Case: F, 34Y0M, Chinese

DiseaseAssertion: VHL

FamilyInfo: Her father and two sisters presented with this same mutation. The father had RCC diagnosed at 54Y. The one sister (II:3) had had pancreatic tumors at 36Y and hemangioblastomas at 38Y. The brother (II:1) appeared to be non-affected, while the other sister (II:2) had hemangioblastoma, renal cell carcinoma, pancreatic cysts, and Papillary cystadenoma of the epididymis diagnosed at 37Y; and pheochromocytoma at 39Y

CasePresentingHPOs: HP:0009711 (retinal capillary angiomas)

CaseHPOFreeText: had retinal angiomas at 34Y

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R167W (c.499C>T)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: 2218 (https://www.ncbi.nlm.nih.gov/clinvar/variation/2218/)

CAID: N/A

gnomAD: 0.000007954 https://gnomad.broadinstitute.org/variant/3-10191506-C-T

VariantEvidence: N/A

MutationType: missense_variant; transition

CivicName: R167W (c.499C>T)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:retinalcapillaryhemangioma:34 ClinVarID:2218 ClinVarID:Yes ExperimentalAssay Familial FamilyPedigree AssumedRefSeq:NM_000551.3 Mutation:Germline ProteinPosition:167 CivicName:R167W(c.499C>T) cDNAposition:499 AminoAcidChange:ARGtoTRP MutationType:missense_variant;transition inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation

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