Hypothesis

GroupID: 20

Case: 19Y0M, 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 angiomas diagnosed at 19Y

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

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Supplementary Table S1.

Variant: p.T124Hfs*35 (c.369delG)

LegacyVariant: p.Thr124Hisfs*35 (c.367delG)

CaseProblemVariantFreeText: c.367delG automaps to c.369delG - most up to date transcript

ClinVarID: N/A

CAID: CA432421810 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.369delG

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_1_frameshift_variant

CivicName: T124fs (c.369del)

MultipleGeneVariants: N/A

DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:retinalcapillaryhemangioma:19 cDNAposition:369 ProteinPosition:124 CivicName:T124fs(c.369del) MutationType:minus_1_frameshift_variant AminoAcidChange:THRtoHIS CAID:CA432421810 ClinVarID:N/A Mutation:Germline RefSeq:NM_000551.2 SupplementalData ExperimentalAssay InheritancePattern:AutosomalDominant NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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