Hypothesis

The patient was heterozygous for the novel c.163 G > T (p.55GluX) amber nonsense mutation

PatientID: 1

KindredID: 1 (A)

Case: M, 15Y0M, Hungarian

DiseaseAssertion: VHL

FamilyInfo: Both parents were healthy with no display of any mutations in the VHL gene, indicating a de novo mutation.

CasePresentingHPOs: HP:0006770; HP:0009711 (clear cell renal cell carcinoma, retinal capillary hemangioma)

CaseHPOFreeText: Patient developed bilateral retinal angioma (retinal capillary hemangioma) and had serious retinal detachment.

CaseNotHPOs: HP:0010797; HP:0002666 (hemangioblastoma, pheochromocytoma)

CaseNotHPOFreeText: MRI of the craniospinal axis could not detect any alterations. No deviation from normal values was observed in the laboratory test.

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.E55* (c.163G>T)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVar: N/A

CAID: CA351748495 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.163G%3ET

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant; transversion

CivicName: E55* (c.163G>T)

MultipleGeneVariants: N/A

InheritancePattern:DeNovoAssertion Ethnicity:Hungarian DiseaseEntity:VHL DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:retinalcapillaryhemangioma:15 AgeOfPresentation:clearcellrenalcellcarcinoma:15 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:163 ProteinPosition:55 AminoAcidChange:GLUtoTER CivicName:E55*(c.163G>T) deNovoConfirmed CAID:CA351748495 MutationType:stop_gained ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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