Hypothesis

PMID: 23143947

PatientID: CIV:3

KindredID: C

Case: M, 33Y0M, Chinese

DiseaseAssertion: assumed VHL

FamilyInfo: A 4-generation family is given with 3 confirmed members with this mutation. 3 other members had VHL-presenations however had not been tested for the gene.

CasePresentingHPOs: HP:0006748; HP:0005584; HP:0001737 (adrenal pheochromocytoma, renal cell carcinoma, pancreatic cysts)

CaseHPOFreeText: diagnosed with right renal cell carcinoma, right adrenal pheochromocytoma and multiple pancreatic and renal cysts at the age of 33, but refused genetic screening.

CaseNotHPOs: HP:0010797; HP:0009711 (hemangioblastoma, retinal capillary hemangioma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.S80I (c.239G>T) [assumed]

LegacyVariant: p.S80I (c.452G>T)

CaseProblemVariantFreeText: N/A

ClinVarID: 625229 https://www.ncbi.nlm.nih.gov/clinvar/variation/625229/

CAID: N/A

gnomAD: N/A

VariantEvidence: No genetic testing was done (patient refused), however family history and presentation leads to this assumption

MutationType: missense_variant; transversion

CivicName: S80I (c.239G>T)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline AssumedRefSeq:AF010238.1 CivicName:S80I(c.239G>T) cDNAposition:239 ProteinPosition:80 AminoAcidChange:SERtoILE MutationType:missense_variant;transversion Familial FamilyPedigree ClinVarID:625229 ClinVarID:Yes DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticcysts AgeOfPresentation:pancreaticcysts:33 AgeOfPresentation:renalcellcarcinoma:33 AgeOfPresentation:adrenalpheochromocytoma:33 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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