Hypothesis

VHL-12c.326delTp.Ile109 fsStop at codon 158this studyyesA1Multiple+––+–

PatientID: VHL-12

KindredID: 12

Case: Sex Unknown, Age Unknown, Italian

DiseaseAssertion: VHL

FamilyInfo: Family history of VHL. No further details provided.

CohortInfo: Forty-three index cases were referred to the Service of Medical Genetics, Genova, for germline mutation analysis in the VHL gene between 1995 and 2008.

CasePresentingHPOs: HP:0005584; HP:0010797; HP:0009711 (Renal cell carcinoma, Hemangioblastoma, Retinal capillary hemangioma)

CaseHPOFreeText: Multiple CNS hemangioblastomas. Clinical classification: A1.

CaseNotHPOs: HP:0002666; HP:0001732 (Pheochromocytoma, Abnormality of the pancreas)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.I109Tfs*50 (c.326del)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA658820709, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.326del

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_1_frameshift_variant; deletion

CivicName: I109TfsX50 (c.326del)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Ethnicity:Italian DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:326 ProteinPosition:109 AminoAcidChange:ILEtoTHR ClinVarID:N/A CAID:CA658820709 MutationType:deletion MutationType:minus_1_frameshift_variant CivicName:I109TfsX50(c.326del) Familial NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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