Hypothesis

PatientID: 234

KindredID: 87

Case: F, 27Y0M, Chinese

DiseaseAssertion: VHL

FamilyInfo: The proband's mother, patient 235, passed away before diagnosis/ germline testing, but presented with multiple pancreatic cysts/tumors at age 38.

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

CaseHPOFreeText: The proband presented with renal cell carcinoma and multiple pancreatic cysts/tumors at age 27.

CaseNotHPOs: HP:0010797; HP:0002666; HP:0009711; (Hemangioblastoma, Pheochromocytoma, Retinal capillary hemangioma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: This patient was also published in a later paper by Wang et al., 2018 (PMID: 29330336).

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

Variant: c.565_570del (p.E189_D190del)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA2573320338, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573320338

gnomAD: N/A

VariantEvidence: N/A

MutationType: inframe_deletion

CivicName: E189_D190del (c.565_570delGAAGAC)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:abnormalityofthepancreas DiseaseEntity:pancreaticcysts AgeOfPresentation:renalcellcarcinoma:27 AgeOfPresentation:pancreaticcysts:27 AgeOfPresentation:abnormalityofthepancreas:27 cDNAposition:565 ProteinPosition:189 ClinVarID:N/A CAID:CA2573320338 MutationType:inframe_deletion CivicName:E189_D190del(c.565_570delGAAGAC) Familial SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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