Hypothesis

GroupID: 28

Case: 24Y0M, Sex Unknown, Ethnicity Unknown

DiseaseAssertion: retinal capillary hemangioma

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 (retinal capillary hemangioma)

CaseHPOFreeText: patient had retinal capillary hemangioma diagnosed at 24Y

CaseNotHPOs: HP:0002666; HP:0006880; HP:0005584 (pheochromocytoma; cerebellar hemangioblastoma; renal cell carcinoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Supplementary Table S1.

Variant: p.L153Tfs*21 (c.456dupA)

LegacyVariant: c.455_456insA

CaseProblemVariantFreeText: c.455_456insA automaps to c.456dupA due to redundancy

ClinVarID: N/A

CAID: CA2499307154 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2499307154

gnomAD: N/A

VariantEvidence: N/A

MutationType: duplication

CivicName: T152fs (c.455insA)

MultipleGeneVariants: N/A

DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:retinalcapillaryhemangioma:24 CAID:CA2499307154 ClinVarID:N/A cDNAposition:456 MutationType:duplication ProteinPosition:153 AminoAcidChange:LEUtoTHR CivicName:T152fs(c.455insA) NoFamilyInfo Mutation:Germline RefSeq:NM_000551.2 ExperimentalAssay SupplementalData InheritancePattern:AutosomalDominant inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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