Hypothesis

16 different families

PatientID: VIII-I

KindredID: 8

Case: M, 20Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: No family history reported.

CasePresentingHPOs: HP:0006748; HP:0030424 (adrenal pheochromocytoma, epididymal cyst)

CaseHPOFreeText: Patient first presented with adrenal pheochromocytoma and epididymal at age 20Y0M and was diagnosed with VHL type 2C (see table 2).

CaseNotHPOs: HP:0001737; HP:000107; HP:0005584; HP:0002668; HP:0030405 (pancreatic cysts; renal cyst; renal cell carcinoma; paraganglioma; pancreatic endocrine tumor)

CaseNotHPOFreeText: Patient negative for pancreatic cysts, pancreatic endocrine tumors, renal cell carcinoma, renal cysts, and paraganglioma.

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R64P (c.191G>C)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: 2226, https://www.ncbi.nlm.nih.gov/clinvar/variation/2226/

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant, transversion

CivicName: R64P (c.191G>C)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transversion RefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:epididymalcyst CivicName:R64P(c.191G>C) cDNAPosition:191 ProteinPosition:64 AminoAcidChange:ARGtoPRO ClinVarID:Yes ClinVarID:2226 NoFamilyInfo AgeOfPresentation:VHL:20 AgeOfPresentation:adrenalpheochromocytoma:20 AgeOfPresentation:epididymalcyst:20 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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