Hypothesis

PatientID: 107

KindredID: 36

Case: M, 18Y0M, Chinese

DiseaseAssertion: VHL

FamilyInfo: The proband's mother presented with a CNS hemangioblastoma and retinal angioma at age 29, but passed away before the mutation could be confirmed.

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

CaseHPOFreeText: The proband presented with a CNS hemangioblastoma and retinal angioma at age 18.

CaseNotHPOs: HP:0005584; HP:0001737; HP:0001732; HP:0002666 (Renal cell carcinoma, Pancreatic cysts, Abnormality of the pancreas, Pheochromocytoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: This cohort was also published in a later paper by Wang et al., 2018 (PMID: 29330336).

SupplementalData: Patient and family genotype-phenotype information is listed in Supplementary Table 1.

Variant: p.H110Pfs*49 (c.329delA)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 560741, https://www.ncbi.nlm.nih.gov/clinvar/variation/560741/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_1_frameshift_variant

CivicName: H110PFS*49 (c.329delA)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:hemangioblastoma:18 AgeOfPresentation:retinalcapillaryhemangioma:18 MutationType:minus_1_frameshift_variant ClinVarID:560741 ClinVarID:Yes cDNAposition:329 ProteinPosition:110 AminoAcidChange:HIStoPRO CivicName:H110PFS*49(c.329delA) SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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