Hypothesis

Patients: Two generations of a family consisting of 15 individuals were studied.

PatientID: III:9

KindredID: 1

Case: F, 25Y, Spanish

DiseaseAssertion: pheochromocytoma

FamilyInfo: Spanish family of 15 members studied, over 2 generations. 6 members had VHL presentations, 1 was a carrier, and 4 others had the mutation, while 2 were not sequenced. This patient’s sister was a carrier, while her mother mother, uncle, and cousins were affected.

CasePresentingHPOs: HP:0002666 (pheochromocytoma)

CaseHPOFreeText: First studied at 19Y, she had a bilateral tumor accumulation (Right, 6cm and Left 4cm).

CaseNotHPOs: HP:0006880; HP:0009711 (cerebellar hemangioblastoma, retinal capillary hemangioma)

CaseNotHPOFreeText: Brain MRI and CT-scans were normal, and no signs of retinal angiomas were present.

CasePreviousTesting: RET

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R167W (c.499C>T)

LegacyVariant: p.R238T, C>T

CaseProblemVariantFreeText: N/A

ClinVarID: 2218, https://www.ncbi.nlm.nih.gov/clinvar/variation/2218/

CAID: N/A

gnomAD: 0.000007954, https://gnomad.broadinstitute.org/variant/3-10191506-C-T

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: R167W (c.499C>T)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Ethnicity:Spanish AgeOfPresentation:pheochromocytoma:19 DiseaseEntity:pheochromocytoma Mutation:Germline AssumedRefSeq:AF010238.1 Familial FamilyPedigree ProteinPosition:167 CivicName:R167W(c.499C>T) cDNAposition:499 AminoAcidChange:ARGtoTRP MutationType:missense_variant;transition ClinVarID:2218 ClinVarID:Yes PreviousTesting:RET inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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