Hypothesis

BIP–27–19Renal cysts, pancreatic cysts, and polyglobulia1

PatientID: None

KindredID: B

Case: M, 27Y0M, Hungarian

DiseaseAssertion: VHL

FamilyInfo: The parents of the patient rejected clinical and genetic screening, whereas clinical screening in a younger brother of the index patient revealed no abnormality.

CasePresentingHPOs: HP:0009711, HP:0000107, HP:0001737, HP:0001901, HP:0006880 (retinal capillary hemangioma, renal cyst, pancreatic cysts, polycythemia, cerebellar hemangioblastoma)

CaseHPOFreeText: Retina involvement presented at age 19. The patient had cerebellar hemangioma as well as renal and pancreatic cysts at the age of 27 years.

CaseNotHPOs: HP:0005584, HP:0002666 (renal cell carcinoma, pheochromocytoma)

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 DiseaseEntity:VHL Mutation:Germline Ethnicity:Hungarian AssumedRefSeq:NM_000551.3 NoFamilyInfo DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts DiseaseEntity:polycythemia DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:RetinalCapillaryHemangioma:19 AgeOfPresentation:cerebellarhemangioblastoma:27 AgeOfPresentation:renalcyst:27 AgeofPresentation:pancreaticcysts:27 CivicName:R161*(c.481C>T) cDNAposition:481 ProteinPosition:161 MutationType:stop_gained ClinVarID:2217 ClinVarID:Yes AminoAcidChange:ARGtoTER inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation

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