Hypothesis

Case 3 involved a male patient first diagnosed with a 6–7 cm left adrenal pheochromocytoma resected at age 51. He was later referred to the NIH where at age 72 surgical debulking was carried out revealing diffuse peritoneal metastases.

PatientID: 3

KindredID: 3

Case: M, 72Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

CaseHPOFreeText: First diagnosed with a left adrenal pheochromocytoma resected at age 51. He was later referred to the NIH where at age 72 surgical debulking was carried out revealing diffuse peritoneal metastases.

CaseNotHPOs: HP:0100006; HP:0000478; HP:0009726 (Neoplasm of the central nervous system, Abnormality of the eye, Renal neoplasm)

CaseNotHPOFreeText: Opthalmological examinations and imaging studies for lesions in the central nervous system, kidneys and organ systems failed to reveal any evidence of VHL syndrome.

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Table 1

Variant: c.340+5G>C

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 36901, https://www.ncbi.nlm.nih.gov/clinvar/variation/36901/

CAID: N/A

gnomAD: 0.01119 https://gnomad.broadinstitute.org/variant/3-10183876-G-C

VariantEvidence: This variant’s large allele frequency means this is likely non disease causing (not deleterious).

MutationType: splice_site_variant

CivicName: Splice Region (c.340+5G>C)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:36901 MutationType:splice_site_variant CivicName:SpliceRegion(c.340+5G>C) NoFamilyInfo SupplementalData cDNAposition:N/A DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:51 AgeOfPresentation:adrenalpheochromocytoma:72 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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