Hypothesis

c.481C>T p.Arg161Stop

PatientID: None (proband 15)

KindredID: 15

Case: M, 36Y0M, Chinese

DiseaseAssertion: VHL

FamilyInfo: Father had died before diagnosis therefore no DNA sample available; He presented with CNS hemangioblastomas at the age of 42.

CasePresentingHPOs: HP:0010797; HP:0005584; HP:0001737; HP:0009715; HP:0030393 (hemangioblastoma, renal cell carcinoma, pancreatic cysts, papillary cystadenoma of the epididymis, endolymphatic sac tumor)

CaseHPOFreeText: Patient presented with hemangioblastoma at age 29, renal cell carcinoma at age 29, pancreatic cysts at age 36, endolymphatic sac tumor at age 33, papillary cystadenoma of the epididymis at age 29.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R161* (c.481C>T)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: stop_gained

CivicName: R161* (c.481C>T)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticcysts DiseaseEntity:papillarycystadenomaoftheepididymis DiseaseEntity:endolymphaticsactumor AgeOfPresentation:hemangioblastoma:29 AgeOfPresentation:renalcellcarcinoma:29 AgeOfPresentation:endolymphaticsactumor:33 AgeOfPresentation:papillarycystadenomaoftheepididymis:29 Mutation:Germline AssumedRefSeq:NM_000551.3 ClinVarID:2217 ClinVarID:Yes AminoAcidChange:ARGtoTER MutationType:stop_gained AgeOfPresentation:pancreaticcysts:36 ExperimentalAssay Familial CivicName:R161*(c.481C>T) cDNAposition:481 ProteinPosition:161 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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