Hypothesis

GroupID: 65

Case: 48Y0M, Sex Unknown, Ethnicity Unknown

DiseaseAssertion: assumed VHL

FamilyInfo: 1 of the 573 patients discussed in this paper were found to have this variant. This mutation (c.344A>C) was found in 1 VHL family with a single patient.

CasePresentingHPOs: HP:0009711; HP:0006880 (retinal capillary hemangioma; cerebellar hemangioblastoma)

CaseHPOFreeText: patient had cerebellar hemangioblastoma diagnosed at 48Y and a retinal angioma at 24Y

CaseNotHPOs: HP:0005584; HP:0002666 (renal cell carcinoma; pheochromocytoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Supplementary Table S1.

Variant: p.H115P (c.344A>C)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: 560744 https://www.ncbi.nlm.nih.gov/clinvar/variation/560744/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: H115P (c.344A>C)

MultipleGeneVariants: N/A

ClinVarID:560744 ClinVarID:Yes DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:retinalcapillaryhemangioma:24 AgeOfPresentation:cerebellarhemangioblastoma:48 SupplementalData ProteinPosition:115 AminoAcidChange:HIStoPRO cDNAposition:344 MutationType:missense_variant;transversion CivicName:H115P(c.344A>C) NoFamilyInfo Mutation:Germline ExperimentalAssay InheritancePattern:AutosomalDominant RefSeq:NM_000551.2 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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