Hypothesis

813MPCC–NENorA, cH (12 years)VHLc.500G>Abp.(Arg167Gln)

PatientID: 8

KindredID: 4

Case: M, 13Y0M, Spanish

DiseaseAssertion: VHL

FamilyInfo: None

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

CasePresentingHPOs: HP:0002666, HP:0009711, HP:0006880 (pheochromocytoma, retinal capillary hemangioma, cerebellar hemangioblastoma)

CaseHPOFreeText: The patient had a benign pheochromocytoma that was secreting norepinephrine at age 13. The patient had a retinal angioma and cerebellar hemangioma at age 12.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

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

PreviouslyPublished: Yes source unknown.

SupplementalData: N/A

Variant: p.R167Q (c.500G>A)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVar: 2216 https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/

CAID: N/A

gnomAD: 0.000003977 https://gnomad.broadinstitute.org/variant/3-10191507-G-A

VariantEvidence:N/A

MutationType: missense_variant;transition

CivicName: R167Q (c.500 G >A)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant AssumedRefSeq:NM_000551.3 Mutation:Germline DiseaseEntity:pheochromocytoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:pheochromocytoma:13 AgeOfPresentation:RetinalCapillaryHemangioma:12 AgeOfPresentation:cerebellarhemangioblastoma:12 NonFamilial PreviousTesting:RET/SDHA/SDHB/SDHC/SDHD/SDHAF2/TMEM127/MAX ClinVarID:2216 ClinVarID:Yes CivicName:R167Q(c.500G>A) cDNAposition:500 ProteinPosition:167 AminoAcidChange:ARGtoGLN MutationType:missense_variant;transition DiseaseEntity:VHL Ethnicity:Spanish inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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