Hypothesis

missense mutations (1/16)

PatientID: 6

KindredID: 6

Case: 29Y0M, Sex Unknown, Argentinian

DiseaseAssertion: VHL

FamilyInfo: Positive family history

CasePresentingHPOs: HP:0010797; HP:0009711; HP:0001737; HP:0000107 (hemangioblastoma; retinal capillary hemangioma; pancreatic cysts; renal cysts)

CaseHPOFreeText: Aged 22Y at diagnosis (genetic testing); fulfils type 1 VHL clinical diagnosis. CNS and retinal hemangioblastoma was diagnosed at 22, pancreatic cysts and renal cysts were diagnosed at 29Y (See Table 1 & 2).

CaseNotHPOs: N/A

CaseNotHPOFreeText: absence of pheochromocytoma/paraganglioma (pheo/pgl) after 14 years of follow-up.

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.C162W (c.486C>G)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 223227 https://www.ncbi.nlm.nih.gov/clinvar/variation/223227/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant; transversion

CivicName: C162W (c.486C>G)

MultipleGeneVariants: N/A

Ethnicity:Argentinian DiseaseEntity:VHL Familial ClinVarID:Yes ClinVarID:223227 MutationType:missense_variant;transversion CivicName:C162W(c.486C>G) cDNAposition:486 ProteinPosition:162 AminoAcidChange:CYStoTRP DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:pancreaticcysts DiseaseEntity:renalcyst AgeOfPresentation:pancreaticcysts:29 AgeOfPresentation:renalcyst:29 AgeOfPresentation:hemangioblastoma:22 AgeOfPresentation:retinalcapillaryhemangioma:22 Mutation:Germline RefSeq:NM_000551.3 ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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