Hypothesis

12 c.454A>C p.Thr152Pro p.T152P Sporadic VHL

PatientID: None

KindredID: 12

Case: Age, Sex, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: The patient has no family history of VHL disease. They were identified as sporadic with their parents being excluded from having a germline mutation.

CasePresentingHPOs: HP:0010797; HP:0000107; HP:0001737; HP:003042 (hemangioblastoma, renal cyst, pancreatic cysts, epididymal cyst)

CaseHPOFreeText: N/A

CaseNotHPOs: HP:0009711; HP:0002666; HP:0005584 (retinal capillary hemangioma, pheochromocytoma, renal cell carcinoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.T152P (c.454A>C)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: 928821 https://www.ncbi.nlm.nih.gov/clinvar/variation/928821/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: T152P (c.454A>C)

MultipleGeneVariants: N/A

ClinVarID:928821 ClinVarID:Yes DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcyst DiseaseEntity:epididymalcyst DiseaseEntity:pancreaticcysts NonFamilial InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551.2 cDNAposition:454 MutationType:missense_variant;transversion CivicName:T152P(c.454A>C) ProteinPosition:152 AminoAcidChange:THRtoPRO inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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