Hypothesis

PatientID: Proband 6

KindredID: 2

Case: F, 28Y0M, Chinese

DiseaseAssertion: VHL

FamilyInfo: Mother, aunt and aunt’s cousin (all relative to proband 6) had this variant. Mother and proband presented with unilateral pheochromocytoma and aunt and aunt’s cousin were asymptomatic. Proband also presented with a renal cyst and hypertension.

CasePresentingHPOs: HP:0002666; HP:0000107; HP:0000822 (Pheochromocytoma, Renal cyst, Hypertension)

CaseHPOFreeText: Unilateral PCC diagnosed at 28Y and unilateral renal cyst and hypertension. Stated as having VHL type IIC.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R120T (c.359G>C)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA351753738, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.359G%3EC

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: R120T (c.359G>C)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:renalcyst DiseaseEntity:hypertension AgeOfPresentation:pheochromocytoma:28 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:359 ProteinPosition:120 AminoAcidChange:ARGtoTHR ClinVarID:N/A CAID:CA351753738 MutationType:missense_variant;transversion CivicName:R120T(c.359G>C) Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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