Hypothesis

1515, 17FbPCC, TA PGLHTN, sDMNENoNoVHLc.284C>Gbp.(Pro95Arg)No

PatientID: 15

KindredID: 1

Case: F, 17Y0M, Spanish

DiseaseAssertion: VHL

FamilyInfo: None

CohortInfo: 36 pediatric patients with pheochromocytomas and/or parangangliomas.

CasePresentingHPOs: HP:0002666, HP:0002668 (pheochromocytoma, paraganglioma)

CaseHPOFreeText: The patient was admitted due to hypertension and secondary diabetes mellitus. She was found to have a norepinephrine secreting bilateral pheochromocytoma at age 15 and a thoracic-abdominal paraganglioma at age 17.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: RET, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127, MAX

PreviouslyPublished: Yes source unknown.

SupplementalData: N/A

Variant: p.P95R (c.284C>G)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA351750809 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.284C%3EG

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: P95R (c.284C>G)

MultipleGeneVariants: N/A

MutationType:missense_variant;transversion InheritancePattern:AutosomalDominant Ethnicity:Spanish DiseaseEntity:VHL Mutation:Germline AssumedRefSeq:NM_000551.3 NonFamilial DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:15 DiseaseEntity:Paraganglioma AgeofPresentation:Paraganglioma:17 PreviousTesting:RET/SDHA/SDHB/SDHC/SDHD/SDHAF2/TMEM127/MAX cDNAposition:284 ProteinPosition:95 AminoAcidChange:PROtoARG CAID:CA351750809 ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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