Hypothesis

VHL-7c.499_504delinsTp.Arg167 fsStop at codon 170[7]noA2–Bilateral––+Renal

PatientID: VHL-7

KindredID: 7

Case: Sex Unknown, Age Unknown, Italian

DiseaseAssertion: VHL

FamilyInfo: No family history of VHL.

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:0009711; HP:0000107 (Renal cell carcinoma, Retinal capillary hemangioma, Renal cyst)

CaseHPOFreeText: Bilateral renal cell carcinoma. Clinical classification: A2.

CaseNotHPOs: HP:0010797; HP:0002666; HP:0001732 (Hemangioblastoma, Pheochromocytoma, Abnormality of the pancreas)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R167Sfs*5 (c.499_504delinsT)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA16621943, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.499_504delinsT

gnomAD: N/A

VariantEvidence: N/A

MutationType: delins

CivicName: R167Sfs*5 (c.499_504delinsT)

MultipleGeneVariants: N/A

InheritancePattern:DeNovoAssertion Ethnicity:Italian DiseaseEntity:VHL DiseaseEntity:renalcyst DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:499 ProteinPosition:167 AminoAcidChange:ARGtoSER ClinVarID:N/A CAID:CA16621943 MutationType:delins CivicName:R167Sfs*5(c.499_504delinsT) NonFamilial NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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