Hypothesis

X214C one case (male)

PatientID: None

KindredID: 3

Case: M, 62Y0M, Ethnicity Unknown

DiseaseAssertion: Assumed VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0002666; HP:0010797; HP:0009713; HP:0009711; HP:0006770; HP:0030405 (Pheochromocytoma, CNS hemangioblastoma, spinal hemangioblastoma, retinal hemangioblastoma, clear cell renal cell carcinoma, pancreatic endocrine tumour)

CaseHPOFreeText: The patient presented with clear cell renal carcinoma, and a pancreatic neuroendocrine tumor at age 62. The patient also presented with bilateral pheochromocytomas, multiple CNS and spinal hemangioblatomas, and retinal hemangioblastomas at an unknown age.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.*214Cext*14(c.642A>T)

LegacyVariant: N/A

ClinVarID: 625270, http://www.ncbi.nlm.nih.gov/clinvar/variation/625270

gnomAD: N/A

VariantEvidence: N/A

MutationType: stop_loss

CivicName: *214Cext*14(c.642A>T)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:hemangioblastoma DiseaseEntity:spinalhemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:neoplasmofthepancreas DiseaseEntity:clearcellrenalcellcarcinoma AgeOfPresentation:clearcellrenalcellcarcinoma:62 AgeOfPresentation:neoplasmofthepancreas:62 Mutation:Germline RefSeq:N/A AssumedRefSeq:NM_000551.3 cDNAposition:642 ProteinPosition:214 AminoAcidChange:N/A ClinVarID:Yes ClinVarID:625270 MutationType:stop_loss CivicName:*214Cext*14(c.642A>T) NoFamilyInfo inferred_gene_hgnc:2135 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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