Hypothesis

45-year old Japanese woman

PatientID: None

KindredID: 1

Case: F, 45Y0M, Japanese

DiseaseAssertion: VHL

FamilyInfo: No evidence of a family history of VHL.

CasePresentingHPOs: HP:0001737; HP:0030405; HP:0006880; HP:0006748; HP:0009711; HP:0001732; HP:0002896 (Pancreatic cysts, Pancreatic endocrine tumor, Cerebellar hemangioblastoma, Adrenal pheochromocytoma, Retinal capillary hemangioma, Abnormality of the pancreas, Neoplasm of the liver)

CaseHPOFreeText: The proband had a cerebellar hemangioblastoma resected at age 17, retinal hemangioblastoma surgery at age 26, and an adrenalectomy for pheochromocytoma at age 30. An abdominal CT revealed a 4cm abdominal mass and diffuse pancreatic cystic lesions, diagnosed as pancreatic neuroendocrine tumor.

CaseNotHPOs: N/A

CaseNotHPOFreeText:

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.Q132* (c.394C>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 288749, (https://www.ncbi.nlm.nih.gov/clinvar/variation/288749/)

CAID: CA10606205 (http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA10606205)

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: Q132* (c.394C>T)

MultipleGeneVariants: N/A

DiseaseEntity:VHL Mutation:Germline AminoAcidChange: GLNtoTER ProteinPosition:132 CAiD:CA10606205 MutationType:missense_variant;transition CivicName:Q132*(c.394C>T) DiseaseEntity:pancreaticcysts DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:hemangioblastoma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:abnormalityofthepancreas AgeOfPresentation:cerebellarhemangioblastoma:17 AgeOfPresentation:retinalcapillaryhemangioma:26 AgeOfPresentation:adrenalpheochromocytoma:30 cDNAposition:394 AssumedRefSeq:NM_000551.3 NonFamilial InheritancePattern:AutosomalDominant Ethnicity:Japanese ClinVarID: 288749 ClinVarID:Yes DiseaseEntity:neoplasmoftheliver inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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