PatientID: 46
KindredID: 46
Case: M, 48Y0M, Korean
DiseaseAssertion: VHL
FamilyInfo: Family history negative for VHL.
CohortInfo: 26 Korean patients with more than one HAB in the CNS or eye, a single HAB in the CNS or retina plus a visceral manifestation (multiple renal, pancreatic or hepatic cysts, pheochromocytoma and RCC) and positive family history plus any one of the above manifestations.
CasePresentingHPOs: HP:0005584 (Renal cell carcinoma)
CaseHPOFreeText: Multiple or bilateral renal cell carcinoma. Diagnosed with VHL Type 1.
CaseNotHPOs: HP:0009711; HP:0002666; HP:0010797 (Retinal capillary hemangioma, Pheochromocytoma, Hemangioblastoma)
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: “Shin, K. H., Park, K. J., Kim, S. W., Lee, S. H., Lee, S.-E., Jung, H.-W. et al. Germline mutations of VHL gene in Korean von Hippel–Lindau disease patients. J. Korean Cancer 28, 544–554 (1996).” (Reference 19 in current publication).
SupplementalData: N/A
Variant: p.R108Hfs*23 (c.323_324del)
LegacyVariant: N/A
CaseProblemVariantFreeText: cDna and protein (i.e. c.536delGC deletion) do not match reference sequence. “This mutation, which reported in Shin et al., 1996 described as the reference 19 in our manuscript, was also corrected to c.323_324delGC, p.Arg108Hisfs*23 based on transcript NM_000551.3 in the human mutation database as below” (Author Rhee comment).
ClinVarID: N/A
CAID: CA916832609, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA916832609
gnomAD: N/A
VariantEvidence: N/A
MutationType: deletion; minus_2_frameshift_variant
CivicName: R108Hfs*23 (c.323_324del)
MultipleGeneVariants: N/A