Hypothesis

nonsense mutations (6/16)

PatientID: 3

KindredID: 3

Case: 27Y0M, Sex Unknown, Argentinian

DiseaseAssertion: VHL

FamilyInfo: No family history

CasePresentingHPOs: HP:0010797; HP:0006770; HP:0001737; HP:0000107; HP:0030424 (hemangioblastoma; clear cell renal cell carcinoma; pancreatic cysts; renal cyst; epididymal cyst)

CaseHPOFreeText: Aged 20Y at diagnosis (genetic testing); fulfils type 1 VHL clinical diagnosis. CNS angiomas diagnosed at 20, 25, and 26Y, pancreatic, renal, and epididymal cysts diagnosed at 25Y, ccRCC diagnosed at 27Y. (See Table 1 & 2).

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R161* (c.481C>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: stop_gained

CivicName: R161* (c.481C>T)

MultipleGeneVariants: N/A

Ethnicity:Argentinian DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:pancreaticcysts DiseaseEntity:renalcyst DiseaseEntity:epididymalcyst AgeOfPresentation:hemangioblastoma:20 AgeOfPresentation:pancreaticcysts:25 AgeOfPresentation:renalcyst:25 AgeOfPresentation:epididymalcyst:25 AgeOfPresentation:clearcellrenalcellcarcinoma:27 Mutation:Germline RefSeq:NM_000551.3 ProteinPosition:161 CivicName:R161*(c.481C>T) cDNAposition:481 MutationType:stop_gained AminoAcidChange:ARGtoTER ClinVarID:2217 ClinVarID:Yes NonFamilial ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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