Hypothesis

PatientID: 2

KindredID: 2

Case: F, 44Y0M, Chinese

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0009726; HP:0005562; HP:0009711; HP:0001737; HP:0006770 (Renal neoplasm, Multiple renal cysts, Retinal capillary hemangioma, Pancreatic cysts, Clear cell renal cell carcinoma)

CaseHPOFreeText: Patient 2 was a 44-year-old female with a medical history of asynchronous bilateral solid renal tumors some which were further characterized as clear cell RCC, multiple renal cysts, retinal angioma, pancreatic cysts.

CaseNotHPOs:None

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.N78S (c.233A>G)

LegacyVariant: c.446A>G

CaseProblemVariantFreeText: N/A

ClinVar: 93326, https://www.ncbi.nlm.nih.gov/clinvar/variation/93326/

CAID: CA351749194

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_transition

CivicName: N78S (c.223A>G)

MultipleGeneVariants: N/A

DiseaseEntity:renalneoplasm DiseaseEntity:multiplerenalcysts DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:pancreaticcysts DiseaseEntity:clearcellrenalcellcarcinoma Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:233 ProteinPosition:78 AminoAcidChange:ASNtoSER ClinVarID:93326 CAiD:CA351749194 MutationType:missense_variant;transition CivicName:N78S(c.233A>G) Familial DiseaseEntity:VHL InheritancePattern:AutosomalDominant Ethnicity:Chinese ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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