Hypothesis

PMID: 24112165 Item in Clipboard

PatientID: 2 (II:2)

KindredID: 1

Case: F, 40Y0M, Chinese

DiseaseAssertion: VHL

FamilyInfo: large family history of VHL was tested - 3 members found. The patient's brother and her daughter had the same mutation - Her brother (patient 1) was diagnosed with spinal hemangioblastoma, and at 43Y he was diagnosed with ccRCC in his right kidney

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

CaseHPOFreeText: had cerebellum hemangioblastoma at 38Y and a neoplasm of both kidneys at 40Y, as well as ccRCC, renal and pancreatic cysts.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: 22398592

SupplementalData: N/A

Variant: p.L101R (c.302T>G)

LegacyVariant: L101R (c.515T>G)

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA351751004 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.302T%3EG

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: L101R (c.302T>G)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts AgeOfPresentation:hemangioblastoma:38 Mutation:Germline AssumedRefSeq:AF010238.1 CivicName:L101R(c.302T>G) cDNAposition:302 ProteinPosition:101 AminoAcidChange:LEUtoARG MutationType:missense_variant;transversion CAID:CA351751004 ClinVarID:N/A Familial FamilyPedigree ExperimentalAssay Ethnicity:Chinese inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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