Hypothesis

5-generation Chinese family with VHL

PatientID: III-9

KindredID: 1

Case: M, 63Y0M, Chinese

DiseaseAssertion: Assumed VHL

FamilyInfo: Eight affected individuals in the patient’s family were retrospectively identified by reviewing medical records and from the recall of relatives. Three had passed away before 40 years of age because of central nervous system hemangioblastoma. Among the 10 living family members that carried the same NM_000551.3:c.326_339dupTCCACAGCTACCGA the patient carried, 3 had renal cysts and 1 had developed renal cell carcinoma, 2 had central nervous system hemangioblastoma, 1 had retinal hemangioblastomas, 1 was diagnosed with glioblastoma, and 5 were asymptomatic.

CasePresentingHPOs: HP:0005584; HP:0000107; HP:0010797 (Renal cell carcinoma, renal cyst, CNS hemangioblastoma)

CaseHPOFreeText: N/A

CaseNotHPOs: HP:0009711 (Retinal hemangioblastoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.Gly114Serfs*50(c.326_339dupTCCACAGCTACCGA)

LegacyVariant: N/A

ClinVarID: N/A

CAID: CA2573051018 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573051018

gnomAD: N/A

VariantEvidence: N/A

MutationType: duplication

CivicName: G114fs (c.326_339dupTCCACAGCTACCGA)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:renalcellcarcinoma DiseaseEntity:renalcyst DiseaseEntity:hemangioblastoma AgeOfPresentation:renalcellcarcinoma:63 AgeOfPresentation:renalcyst:63 AgeOfPresentation:hemangioblastoma:63 Mutation:Germline RefSeq:N/A AssumedRefSeq:NM_000551.3 cDNAposition:326 ProteinPosition:114 AminoAcidChange:N/A CAID:CA2573051018 MutationType:duplication CivicName:G114fs(c.326_339dupTCCACAGCTACCGA) Familial FamilyPedigree ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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