PatientID: 1 (case)

KindredID: 1

Case: M, 22Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: His mother and maternal grandfather had VHL disease, and his brother also had retinal angiomas

CasePresentingHPOs: HP:0009711; HP:0006880; HP:0009713; HP:0005584; HP:0000107; HP:0030393 (retinal capillary hemangioma; cerebellar hemangioblastoma; spinal hemangioblastoma; renal cell carcinoma; renal cyst; endolymphatic sac tumor)

CaseHPOFreeText: at 22Y had bilateral retinal angiomas and a 1-year history of truncal sensory disturbance. Neurologic examination showed mild left facial palsy and hypalgia at the level of T6-12, and audiometry disclosed left hearing disturbance by 23 decibels on pure tone average. Multiple lesions in the cerebellar hemispheres and in the spinal cord at the C5-6 and T11-12 levels were observed. A craniotomy for removal of the fourth ventricular tumor. Abdominal tumors disclosed bilateral renal cysts and left renal cell carcinoma. Additionally, a temporal bone tumor was discovered and removed, and consistent with ELST.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.Q73Rfs* (c.217delC)

LegacyVariant: (c.930del)

CaseProblemVariantFreeText: Written as: a single nucleotide deletion at nucleotide 930 in exon 1 (Reference sequence: AF010238.1), which caused a frame shift leading to a premature termination at codon 158. Two Cs at nucleotide 925 (*) were caused by compression, which was confirmed by other sequence data. This updates to NM_000551.3:p.Q73FS (c.215delC). c.215delC automaps to NM_000551.3:c.217delC

ClinVarID: N/A

CAID: CA432536422 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.215delC

gnomAD: N/A

VariantEvidence: This mutation was detectable in all three samples, but the intensity of the wild type sequence was significantly lower in both tumor samples. The DNA from the hemangioblastoma showed loss of heterozygosity at both markers, whereas the DNA from the ELST showed loss of heterozygosity at D3S1259, but not at D3S1263

MutationType: minus_1_frameshift_variant

CivicName: Q73FS (c.215delC)

MultipleGeneVariants: N/A