Hypothesis

14 c.497T>C p.Val166Ala p.V166A Bilateral Pheo

PatientID: None

KindredID: 14

Case: 15Y0M, F, Ethnicity Unknown

DiseaseAssertion: pheochromocytoma

FamilyInfo: The patient has no family history of VHL disease. Genetic testing reveals no mutation in patient's parents indicating that the mutation in patient is sporadic. This was further said to have occurred de novo.

CasePresentingHPOs: HP:0002666 (pheochromocytoma)

CaseHPOFreeText: bilateral pheochromocytoma diagnosed at age 11 years. She was said to have single-organ involvement and did not fulfill diagnostic criteria of VHL.

CaseNotHPOs: HP:0009711; HP:0005584; HP:0010797; HP:0000107; HP:0001737 (retinal capillary hemangioma, renal cell carcinoma, hemangioblastoma, renal cyst, pancreatic cysts)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: Previously reported, HGMD (Human Gene Mutation Database: http://uwcmml1s.uwcm.ac.uk/uwcm/mg/search/120488.html)

SupplementalData: N/A

Variant: p.V166A (c.497T>C)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: 43605 https://www.ncbi.nlm.nih.gov/clinvar/variation/43605/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: V166A (c.497T>C)

MultipleGeneVariants: N/A

DiseaseEntity:pheochromocytoma Mutation:Germline RefSeq:NM_000551.2 ProteinPosition:166 AminoAcidChange:VALtoALA MutationType:missense_variant;transition cDNAposition:497 CivicName:V166A(c.497T>C) InheritancePattern:DeNovoAssertion deNovoConfirmed ClinVarID:43605 ClinVarID:Yes AgeOfPresentation:pheochromocytoma:11 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation

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