Hypothesis

8 I 15 35 6 CNS hb (15 years) 2 retinal hb (15 years) M c.319C > T and c.353 T > C (p.Arg107Cys) and (p.Leu118Pro)

PatientID: I

KindredID: 8

Case: Sex Unknown, 35Y0M, Danish

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0009711; HP:0010797 (Retinal capillary hemangioma, Hemangioblastoma)

CaseHPOFreeText: Diagnosed with VHL at age 15Y. Presented with 6 CNS hemangioblastomas (15Y) and 2 retinal hemangioblastomas (15Y). Age at the end of study: 15Y.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R107C (c.319C>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA351751195, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.319C%3ET

gnomAD: 0.000004522, https://gnomad.broadinstitute.org/variant/3-10183850-C-T?dataset=gnomad_r2_1

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: R107C (c.319C>T)

MultipleGeneVariants: Germline, VHL, c.353T>C (p.L118P)

InheritancePattern:AutosomalDominant Ethnicity:Danish DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma AgeOfPresentation:retinalcapillaryhemangioma:15 AgeOfPresentation:hemangioblastoma:15 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:319 ProteinPosition:107 AminoAcidChange:ARGtoCYS ClinVarID:N/A CAID:CA351751195 MutationType:missense_variant;transition CivicName:R107C(c.319C>T) MultipleVHLVariants NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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