Hypothesis

B5 CHB 39 c.811C → T, R200W No 6 y 3 m Nil 2 FDRs mutation positive

PatientID: B5

KindredID: 5

Case: Sex Unknown, 39Y0M, Ethnicity Unknown

DiseaseAssertion: cerebellar hemangioblastoma

FamilyInfo: Two first degree relatives were found to have the same mutation in the VHL gene, both had no features of VHL disease at 28 and 38 years old

CasePresentingHPOs: HP:0006880 (cerebellar hemangioblastoma)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: no other clinical features were found after the cerebellar hemangioblastoma during 6 years and 3 month follow-up

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R200W (c.598C>T)

LegacyVariant: p.R200W (c.811C>T)

ClinVarID: 2232 (https://www.ncbi.nlm.nih.gov/clinvar/variation/2232/)

CAID: N/A

gnomAD: 0.0002016 (https://gnomad.broadinstitute.org/variant/3-10191605-C-T)

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: R200W(c.598C>T)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant DiseaseEntity:cerebellarhemangioblastoma Mutation:Germline cDNAposition:598 ProteinPosition:200 AminoAcidChange:ARGtoTRP ClinVarID:2232 MutationType:missense_variant;transition CivicName:R200W(c.598C>T) RefSeq:AF010238.1 AgeOfPresentation:cerebellarhemangioblastoma:39 ClinVarID:Yes Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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