PatientID: 8
KindredID: 8
Case: F, 56Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: It is stated that the eight VHL patients were selected from the group of familial VHL patients. Assuming there is family history but no further details were provided. CohortInfo: Eight patients with VHL disease with pheochromocytoma, eight patients with MEN2 and pheochromocytoma, and 10 sporadic patients.
CasePresentingHPOs: HP:0002666 (Pheochromocytoma)
CaseHPOFreeText: Diagnosed with VHL type 2A. Bilateral pheochromocytoma at 31Y. Metastasis in liver, lung and skull bones, 25 years after initial diagnosis. Last follow-up 25 years after diagnosis. Patient died but the age of death is not specified.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: Suspected to be, but not mentioned in paper. Paper says, the eight VHL patients were selected from the group of familial VHL patients withknown VHL germline mutations followed on a clinical protocol at the Urologic Oncology Branch, National Cancer Institute, National Institutes of Health (NIH).
SupplementalData: N/A
Variant: p.R161Q (c.482G>A)
LegacyVariant: c.695G>A
CaseProblemVariantFreeText: N/A
ClinVarID: 182983, https://www.ncbi.nlm.nih.gov/clinvar/variation/182983/
CAID: N/A
gnomAD: N/A
VariantEvidence: Authors report variant as “695, G to A”. Assumed to be reported in legacy nomenclature (AF010238.1 (Latif et al.)) and mapped to c.482G>A (NM_000551.3).
MutationType: missense_variant;transition
CivicName: R161Q (c.482G>A)
MultipleGeneVariants: N/A