Hypothesis

Finally, the R167G mutation was detected in a 20-year-old woman, whose family screening indicated the absence of mutation in her mother and two brothers.

PatientID: None (Proband)

KindredID: ASP (R167G)

Case: F, 20Y0M, Hungarian

DiseaseAssertion: VHL

FamilyInfo: Mutation was absent in mother and two brothers. Proband of this family presented with an apparently sporadic pheochromocytoma and the R167G germline mutation of the VHL gene.

CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

CaseHPOFreeText: Presented with an apparently sporadic unilateral pheochromocytoma. VHL phenotype noted as type 2C.

CaseNotHPOs: N/A

CaseNotHPOFreeText: Clinical evaluation of the three patients indicated the absence of other VHL-related tumors.

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R167G (c.499C>G)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 2219, https://www.ncbi.nlm.nih.gov/clinvar/variation/2219/

CAID: N/A

gnomAD: 0.000007954, https://gnomad.broadinstitute.org/variant/3-10191506-C-T?dataset=gnomad_r2_1

VariantEvidence: Variant reported as R167G and cDNA change was mapped to c.499C>G.

MutationType: missense_variant;transversion

CivicName: R167G (c.499C>G)

MultipleGeneVariants: N/A

InheritancePattern:DeNovoAssertion Ethnicity:Hungarian DiseaseEntity:VHL DiseaseEntity:pheochromocytoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:499 ProteinPosition:167 AminoAcidChange:ARGtoGLY ClinVarID:2219 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:R167G(c.499C>G) NonFamilial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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