PatientID: 1 (case)

KindredID: 1

Case: F, 17Y0M, Ethnicity Unknown

DiseaseAssertion: adrenal pheochromocytoma

FamilyInfo: Her father had bilateral pheochromocytoma at the age of 13 and her grandfather had died of an unknown renal disease at the age of 50. They were both however not tested for any variants. There were no reports of hereditary cutaneous or uterine leiomyomas, renal cell cancer, neuroendocrine tumors or hemangioblastomas of the CNS/retina. Further family evaluation revealed clinical and biochemical evidence of (bilateral) pheochromocytoma in two siblings 19 and age 23. These members also had the VHL mutation, while 2 unaffected family members were negative.

CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)

CaseHPOFreeText: She had persistent episodes of high blood pressure, and was imaging led to the detection of bilateral pheochromocytoma, and underwent an adrenalectomy (which was complicated by cardiac decompensation in the context of catecholamine-induced cardiomyopathy).

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: FH/RET/MAX/NF1/SDHB/SDHC/SDHD/TMEM127

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.G114G (c.342T>C)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA432421783 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.342T%3EC

gnomAD: N/A

VariantEvidence: The FH variant is reported in 9/116704 alleles in the ExAC database. The VHL variant was no reported, however, an T>A transition at the same nucleotide position has been reported once in 1/121408 alleles (ExAC). Researchers suspect synonymous mutation has effects on transcript splicing (2 nucleotides into exon 2).

MutationType: synonymous_variant

CivicName: G114G (c.342T>C)

MultipleGeneVariants: Germline, FH, c.556-4A>G