Hypothesis

GroupID/ KindredID: F41

Case: Sex unknown, 22Y0M, Spanish

DiseaseAssertion: assumed VHL

FamilyInfo: familial antecedents found; unknown of any additional features to index case relatives

CasePresentingHPOs: HP:0009711; HP:0006770; HP:0006880; HP:0000107; HP:0001737 (retinal capillary hemangioma, clear cell renal cell carcinoma, cerebellar hemangioblastoma, renal cysts, pancreatic cysts)

CaseHPOFreeText: Multiple lesions were found with the patient’s cerebellar hemangioma. Unilateral ccRCC. Age of onset is 22Y0M.

CaseNotHPOs: HP:0002666 (pheochromocytoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.L128R (c.383T>G)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA351753891 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.383T%3EG

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant; transversion

CivicName: L128R (c.383T>G)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Mutation:Germline Ethnicity:Spanish Familial DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts RefSeq:AF010238.1 cDNAposition:383 ProteinPosition:128 CivicName:L128R(c.383T>G) MutationType:missense_variant;transversion AminoAcidChange:LEUtoARG CAID:CA351753891 ClinVarID:N/A ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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