patient IV-3
PatientID: IV-3
KindredID: 1
Case: F, 36Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: Her paternal grandmother (II,2) did not carry the mutation. Her paternal grandfather (II-1) died age 42 from a cerebellar hemangioblastoma. Her uncle (III,1) did not harbour the mutation. The patient's father was the proband (III,2) and carried the mutation, presenting with clear cell renal cell carcinoma, hemangioblastoma of CNS, and retinal capillary hemangioblastoma. The mother did not carry the mutation. The patient had one unaffected sister (IV-1) and another who carried the mutation (IV-2) and had a history of pheohcromocytoma, clear cell renal cell carcinoma, hemangioblastoma of the CNS, and retinal capillary hemangioblastoma. Refer to pedigree in Figure 1.
CasePresentingHPOs: HP:0030405, HP:0010797, HP:0009711 ( pancreatic endocrine tumour, hemangioblastoma, retinal capillary hemangioma)
CaseHPOFreeText: N/A
CaseNotHPOs: HP:0006770, HP:0002666 (clear cell renal cell carcinoma, pheochromocytoma )
CaseNotHPOFreeText: No erythrocytosis; the hematocrit, red blood cells count and Epo levels were all normal.
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: Yes supplemental data and figures. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5555745/bin/NIHMS881280-supplement-Supplemental_Data.pdf
Variant: p.R200W (c.598C>T)
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: 2232 https://www.ncbi.nlm.nih.gov/clinvar/variation/2232/
CAID: CA020510 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.598C%3ET
gnomAD: 0.0002016 https://gnomad.broadinstitute.org/variant/3-10191605-C-T
VariantEvidence: The patient was a heterozygous carrier of a single R200W and R161Q mutation (both on the same VHL allele).
MutationType: missense_variant;transition
CivicName:R200W(c.598C>T) and R161Q(c.482G>A)
MultipleGeneVariants: Germline, VHL, c.482G>A (p.Arg161Gln)