Hypothesis

Table 1

PatientID: N/A

KindredID: 17

Case: F, Age Unknown, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: Family history not mentioned. Patient’s variant reported as germline.

CasePresentingHPOs: HP:0006880; HP:0011513; HP:0001737; HP:0000107; HP:0006770 (Cerebellar hemangioblastoma, retinal cavernous angioma, pancreatic cyst, renal cyst, clear cell renal cell carcinoma)

CaseHPOFreeText: Patient had VHL disease type 1: CNS-HB, RA, ccRCC, PC, KCy, and parental mosaicism (see table 1). Previously published 2000 paper (106311387) reports patient as a 48Y female.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: 10631138

SupplementalData: N/A

Variant: p.F76del (c.227_229del)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA357012, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.227_229delTCT

gnomAD: N/A

VariantEvidence: Variant reported as c.226_228del and was mapped to c.227_229del.

MutationType: inframe_deletion

CivicName: F76del (c.227_229del)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Mutation:Germline MutationType:inframe_deletion CivicName:F76del(c.227_229del) cDNAposition:227 ProteinPosition:76 ClinVarID:N/A CAID:CA357012 AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:retinalangioma DiseaseEntity:pancreaticcysts DiseaseEntity:renalcyst DiseaseEntity:clearcellrenalcellcarcinoma NoFamilyInfo DiseaseEntity:retinalcapillaryhemangioma inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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