Hypothesis

frameshift mutations (4/16)

PatientID: 10

KindredID: 10

Case: 30Y0M, Sex Unknown, Argentinian

DiseaseAssertion: VHL

FamilyInfo: Thus far, it has not been possible to study the parents or close relatives of this patient.

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

CaseHPOFreeText: Aged 29Y at diagnosis (genetic testing); fulfils type 1 VHL clinical diagnosis. CNS hemangioblastoma diagnosed at 29Y, ccRCC and renal cysts were diagnosed at 30Y (See Table 1 & 2).

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: Q73Pfs*59 (c.217dupC)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA2497030271 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2497030271

gnomAD: N/A

VariantEvidence: N/A

MutationType: plus_1_frameshift_variant; duplication

CivicName: Q73Pfs*59 (c.217dupC)

MultipleGeneVariants: N/A

Ethnicity:Argentinian DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:renalcyst AgeOfPresentation:hemangioblastoma:29 AgeOfPresentation:renalcyst:30 AgeOfPresentation:clearcellrenalcellcarcinoma:30 MutationType:plus_1_frameshift_variant MutationType:duplication cDNAposition:217 ProteinPosition:73 CivicName:Q73Pfs*59(c.217dupC) AminoAcidChange:GLNtoPRO CAID:CA2497030271 ClinVarID:N/A RefSeq:NM_000551.3 Mutation:Germline ExperimentalAssay NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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