Hypothesis

P1639MPCBenignVHL (p. Arg161X)NA50PosPos

PatientID: P16

KindredID: P16

Case: M, 39Y0M, Ethnicity Unknown

DiseaseAssertion: Pheochromocytoma

FamilyInfo: N/A

CohortInfo: Tumour samples and paired peripheral blood samples were obtained from 39 patients, consisting of 31 PCs, seven extra adrenal PGLs and one metastasis from a malignant PC previously presenting with a PC.

CasePresentingHPOs: HP:0002666 (pheochromocytoma)

CaseHPOFreeText: The patient had a benign pheochromocytoma measuring 50 mm at age 39.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: RET/SDHB/SDHD

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R161* (c.481C>T)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

CAID: N/A

gnomAD: N/A

VariantEvidence: The tumour tested positive for SDHA and SHB IHC.

MutationType: stop_gained

CivicName: R161* (c.481C>T)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Mutation:Germline MutationType:stop_gained AssumedRefSeq:NM_000551.3 DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:39 CasePreviousTesting:RET/SDHB/SDHD CivicName:R161*(c.481C>T) cDNAposition:481 ProteinPosition:161 ClinVarID:2217 ClinVarID:Yes NoFamilyInfo AminoAcidChange:ARGtoTER inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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