Hypothesis

The single patient with the VHL missense mutation (case 1) had his first tumor diagnosed at age 8. He presented initially with a left adrenal pheochromocytoma, which was resected. Recurrent disease was diagnosed at age 26, at which time testing of the VHL gene was carried out.

PatientID: 1

KindredID: 1

Case: M, 26Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

CaseHPOFreeText: First tumor diagnosed at age 8. He presented initially with a left adrenal pheochromocytoma, which was resected. Recurrent disease was diagnosed at age 26, at which time testing of the VHL gene was carried out.

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: p.V84M (c.250G>A)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 428813, https://www.ncbi.nlm.nih.gov/clinvar/variation/428813/

CAID: N/A

gnomAD: 0.000004376, https://gnomad.broadinstitute.org/variant/3-10183781-G-A

VariantEvidence: Mutation was already established. Genotyping information not available.

MutationType: missense_variant;transition

CivicName: V84M (c.250G>A)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:250 ProteinPosition:84 AminoAcidChange:VALtoMET ClinVarID:428813 ClinVarID:Yes MutationType:missense_variant;transition CivicName:V84M(c.250G>A) NoFamilyInfo SupplementalData DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:8 AgeOfPresentation:adrenalpheochromocytoma:26 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

Tags

Annotators

URL