Screening of 68 patients, who had been operated on for apparently sporadic pheochromocytomas, for germline mutations in the VHL gene. This missense mutation was found in a 72 year-old female with unilateral, benign, adrenal pheochromocytoma (patient no. 19). The tumor was operated on at age 58. The variant reported as I147T (c.653T>C), legacy nomenclature (AF010238.1), and was mapped to p.Ile147Thr (c.440T>C) in accordance with reference sequence NM_000551.3.

PatientID: 19

KindredID: 19

Case: F, 72Y0M, Ethnicity Unknown

DiseaseAssertion: Adrenal pheochromocytoma

FamilyInfo: N/A

CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

CaseHPOFreeText: Unilateral benign adrenal pheochromocytoma that was operated on at age 58.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.I147T (c.440T>C)

LegacyVariant: I147T (c.653T>C)

CaseProblemVariantFreeText: N/A

ClinVarID: 411964, https://www.ncbi.nlm.nih.gov/clinvar/variation/411964/

CAID: N/A

gnomAD: N/A

VariantEvidence: Variant reported as I147T (c.653T>C), legacy nomenclature (AF010238.1), and was mapped to p.Ile147Thr (c.440T>C) in accordance with reference sequence NM_000551.3.

MutationType: missense_variant;transition

CivicName: I147T (c.440T>C)

MultipleGeneVariants: N/A

Tissue specimens of apparent sporadic pheochromocytoma were retrieved from the archives of the Department of Pathology of the Erasmus MC (Rotterdam), the Radboud University Nijmegen Medical Center, and the University Hospital Zurich (Switzerland). Mutation analysis was performed using SSCP analysis and BigDye® Terminator V3.1 cycle sequencing kit (Applied Biosystems, Foster City, CA). 136 VHL cases and six germline VHL mutations were found. A c.440T>C, p.Ile147Thr mutation (stated as c.653T>C in the paper which used the Latif sequence as reference) was found in one 58Y female patient with benign adrenal pheochromocytoma. No other phenotypes, patient demographics, or family history was described.