Hypothesis

GroupID: 39

Case: 45Y0M, Sex Unknown, Ethnicity Unknown

DiseaseAssertion: assumed VHL

FamilyInfo: 1 of the 573 patients discussed in this paper were found to have this variant. This mutation was found in 1 VHL family with a single patient.

CasePresentingHPOs: HP:0009711; HP:0006880; HP:0005584 (retinal capillary hemangioma; cerebellar hemangioblastoma; renal cell carcinoma)

CaseHPOFreeText: patient had retinal capillary hemangioma diagnosed at 45Y, cerebellar hemangioblastomas diagnosed at 24Y, and RCC at 45Y

CaseNotHPOs: HP:0002666 (pheochromocytoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Supplementary Table S1.

Variant: p.K196Rfs*59 (c.584_585delAG)

LegacyVariant: N/A

CaseProblemVariantFreeText: This mutation also automaps to NM_000551.3:c.585_586delGA

ClinVarID: 547831 https://www.ncbi.nlm.nih.gov/clinvar/variation/547831/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_2_frameshift_variant

CivicName: K196fs (c.584_585delAG)

MultipleGeneVariants: N/A

DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:renalcellcarcinoma AgeOfPresentation:retinalcapillaryhemangioma:45 AgeOfPresentation:renalcellcarcinoma:45 AgeOfPresentation:cerebellarhemangioblastoma:24 MutationType:minus_2_frameshift_variant ClinVarID:547831 ClinVarID:Yes ProteinPosition:196 cDNAposition:584 CivicName:K196fs(c.584_585delAG) AminoAcidChange:LYStoARG NoFamilyInfo Mutation:Germline RefSeq:NM_000551.2 InheritancePattern:AutosomalDominant SupplementalData ExperimentalAssay inferred_gene_hgnc:20761 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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