Hypothesis

frameshift mutations (4/16)

PatientID: 12

KindredID: 12

Case: 32Y0M, Sex Unknown, Argentinian

DiseaseAssertion: VHL

FamilyInfo: Family history unremarkable; Patient was confirmed to have a de novo mutation.

CasePresentingHPOs: HP:0010797; HP:0009711; HP:0000107; HP:0030424 (hemangioblastoma; retinal capillary hemangioma; renal cyst; epididymal cyst)

CaseHPOFreeText: Aged 32Y at diagnosis (genetic testing); fulfils type 1 VHL clinical diagnosis. Retinal hemangioblastomas and CNS hemangioblastomas diagnosed at 32Y, renal cysts were also diagnosed at 32Y, while epididymal cysts were diagnosed first at 23Y (See Table 1 & 2).

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.V74Sfs*53 (c.219_232delGGTCATCTTCTGCA)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA2497423672 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2497423672

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_2_frameshift_variant

CivicName: V74Sfs*53 (c.219_232delGGTCATCTTCTGCA)

MultipleGeneVariants: N/A

Ethnicity:Argentinian DiseaseEntity:VHL Mutation:Germline CAID:CA2497423672 ClinVarID:N/A NonFamilial deNovoConfirmed InheritancePattern:DeNovoAssertion ExperimentalAssay DiseaseEntity:hemangioblastoma DiseaseEntity:epididymalcyst DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcyst AgeOfPresentation:epididymalcyst:23 AgeOfPresentation:hemangioblastoma:32 AgeOfPresentation:retinalcapillaryhemangioma:32 AgeOfPresentation:renalcyst:32 AminoAcidChange:VALtoSER MutationType:minus_2_frameshift_variant cDNAposition:219 ProteinPosition:74 CivicName:V74Sfs*53(c.219_232delGGTCATCTTCTGCA) RefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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