Hypothesis

HGB-65 B Germline 3 3 c.517 G > T E173X This study NA NA

PatientID: HGB-65

KindredID: 8

Case: Sex Unknown, 31Y0M, Italian

DiseaseAssertion: VHL

FamilyInfo: None.

CohortInfo: The patient cohort consisted of 57 patients (26 male and 31 female) from Southern Italy, most of whom (55 of 57) presented with solitary HGB of the CNS: 6 were syndromic and 51 were apparently sporadic.

CasePresentingHPOs: HP:0006880, HP:0009713 (cerebellar hemangioblastoma, spinal hemangioblastoma)

CaseHPOFreeText: The patient had a multiple cerebellar hemangioblastomas at age 26. The cerebellar hemangioblastomas reoccured at age 29. The patient had a spinal hemangioblastoma at age 30.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.E173* (c.517G>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 825515 https://www.ncbi.nlm.nih.gov/clinvar/variation/825515/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: stop_gained

CivicName: E173* (c.517G>T)

MultipleGeneVariants: N/A

MutationType:stop_gained InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551.3 Ethnicity:Italian DiseaseEntity:VHL NonFamilial DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:spinalhemangioblastoma AgeOfPresentation:cerebellarhemangioblastoma:26 AgeOfPresentation:cerebellarhemangioblastoma:29 AgeOfPresentation:spinalhemangioblastoma:30 cDNAposition:517 ProteinPosition:173 ClinVarID:825515 ClinVarID:Yes CivicName:E173*(c.517G>T) AminoAcidChange:GLUtoTER inferred_gene_hgnc:2210 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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