Hypothesis

HGB-19 B/T Germline 2 2 c.341 G > T G114V This study R No

PatientID: HGB-19

KindredID: 4

Case: Sex Unknown, 44Y0M, 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 single cerebellar hemangioblastoma that was diagnosed at age 32. The patient had a spinal cord hemangioblastoma at age 40.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.G114V(c.341G>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA351753604 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.341G%3ET

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: G114V (c.341G>T)

MultipleGeneVariants: N/A

MutationType:missense_variant;transversion InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551.3 Ethnicity:Italian DiseaseEntity:VHL NonFamilial DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:spinalhemangioblastoma AgeOfPresentation:cerebellarhemangioblastoma:32 AgeOfPresentation:spinalhemangioblastoma:40 cDNAposition:341 ProteinPosition:114 AminoAcidChange:GLYtoVAL ClinVarID:N/A CAID:CA351753604 CivicName:G114V(c.341G>T) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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