Hypothesis

16 different families

PatientID: 1

KindredID: 5

Case: M, 19Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: Patient had 3 carrier children of this mutation, without any further phenotypic information.

CasePresentingHPOs: HP:0005584; HP:0000107; HP:0006748; HP:0009713; HP:0001737; HP:0030939; HP:0100684 (renal cell carcinoma, renal cysts, adrenal pheochromocytoma, spinal hemangioblastoma, pancreatic cysts, endolymphatic sac tumor, salivary gland neoplasm)

CaseHPOFreeText: Patient presented with renal cell carcinoma, renal cysts, adrenal pheochromocytoma, spinal hemangioblastoma, pancreatic cysts, endolymphatic sac tumor and salivary gland neoplasm at age 19Y0M. Patient was diagnosed with VHL type 1 (see table 2).

CaseNotHPOs: HP:0002668; HP:0030405 (paraganglioma; pancreatic endocrine tumor)

CaseNotHPOFreeText: Patient negative for paraganglioma and pancreatic endocrine tumor.

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.G93R (c.277G>C)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 223174, https://www.ncbi.nlm.nih.gov/clinvar/variation/223174

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant, transversion

CivicName: G93R (c.277G>C)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transversion RefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:renalcyst DiseaseEntity:renalcellcarcinoma DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:spinalhemangioblastoma DiseaseEntity:pancreaticcysts DiseaseEntity:endolymphaticsactumor DiseaseEntity:salivaryglandneoplasm CivicName:G93R(c.277G>C) cDNAPosition:277 ProteinPosition:93 AminoAcidChange:GLYtoARG ClinVarID:Yes ClinVarID:223174 Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation

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