Hypothesis

PatientID: 32

KindredID: 32

Case: M, 38Y0M, Korean

DiseaseAssertion: VHL

FamilyInfo: N/A

CohortInfo: 26 Korean patients with more than one HAB in the CNS or eye, a single HAB in the CNS or retina plus a visceral manifestation (multiple renal, pancreatic or hepatic cysts, pheochromocytoma and RCC) and positive family history plus any one of the above manifestations.

CasePresentingHPOs: HP:0005584; HP:0009711 (Renal cell carcinoma, Retinal capillary hemangioma)

CaseHPOFreeText: Multiple pr bilateral retinal hemangioblastoma. Other phenotypes presented but not specified (one or more of: pancreatic cyst or tumor, renal or hepatic cyst). Phenotypes revised from previous reports (see “PreviouslyPublished” section below for reference).

CaseNotHPOs: HP:0010797 (Hemangioblastoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: “Kim, J. H., Cheon, S. H., Oh, C. S., Kim, Y. M. & Park, R. J. Cystic renal cell carcinoma associated with von Hippel–Lindau disease treated by nephron sparing Surgery. Korean J. Urol. 46, 93–95 (2005)” (Reference 9 in the current publication).

SupplementalData: N/A

Variant: p.S139F (c.416C>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 216478, https://www.ncbi.nlm.nih.gov/clinvar/variation/216478/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: S139F (c.416C>T)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDomiant Ethnicity:Korean DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:416 ProteinPosition:139 AminoAcidChange:SERtoPHE ClinVarID:216478 ClinVarID:Yes MutationType:missense_variant;transition CivicName:S139F(c.416C>T) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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