Hypothesis

FIP––2727Horseshoe kidney 2B

PatientID: None

KindredID: F (proband)

Case: M, 27Y0M, Hungarian

DiseaseAssertion: VHL

FamilyInfo: His mother was also found to have this mutation and she had renal cell carcinoma at age 49.

CasePresentingHPOs: HP:0009711, HP:0002666, HP:0000085 (retinal capillary hemangioma, pheochromocytoma, Horseshoe kidney)

CaseHPOFreeText: Patient developed retinal hemangiomas and unilateral pheochromocytoma at the age of 27 years. Abdominal CT showed also horseshoe kidneys.

CaseNotHPOs: HP:0010797, HP:0005584 (hemangioblastoma, renal cell carcinoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

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 Ethnicity:Hungarian AssumedRefSeq:NM_000551.3 Familial DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:RetinalCapillaryHemangioma:27 AgeOfPresentation:pheochromocytoma:27 DiseaseEntity:pheochromocytoma DiseaseEntity:horseshoekidney AgeOfPresentation:Horseshoekidney:27 ProteinPosition:167 CivicName:R167Q(c.500G>A) Mutation:Germline cDNAposition:500 AminoAcidChange:ARGtoGLN MutationType:missense_variant;transition ClinVarID:2216 ClinVarID:Yes DiseaseEntity:VHL inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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