Hypothesis

PatientID: 113

KindredID: 41

Case: M, 36Y0M, Chinese

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0010797; HP:0005584; HP:0001737; HP:0001732 (Hemangioblastoma, Renal cell carcinoma, Pancreatic cysts, Abnormality of the pancreas)

CaseHPOFreeText: The proband presented with a CNS hemangioblastoma at 26, and at age 36 presented with renal cell carcinoma and multiple pancreatic cysts/tumors.

CaseNotHPOs: HP:0009711; HP:0002666 (Retinal capillary hemangioma, Pheochromocytoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: This cohort was also published in an earlier paper by Wang et al., 2014 (PMID 24581539) as well as a later paper by Wang et al., 2018 (PMID: 29330336).

SupplementalData: Patient and family genotype-phenotype information is listed in Supplementary Table 1.

Variant: p.H115Tfs*44 (c.343del)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA432421784, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.343delC

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_1_frameshift_variant

CivicName: H115FS (c.343delC)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:abnormalityofthepancreas DiseaseEntity:pancreaticcysts AgeOfPresentation:hemangioblastoma:26 AgeOfPresentation:pancreaticcysts:36 AgeOfPresentation:abnormalityofthepancreas:36 MutationType:minus_1_frameshift_variant ClinVarID:N/A CAID:CA432421784 CivicName:H115FS(c.343delC) cDNAposition:343 ProteinPosition:115 AminoAcidChange:HIStoTHR SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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