Hypothesis

GroupID: 6

Case: 31Y0M, 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 (c.182_185delCCGT) was found in 1 VHL family with a single patient.

CasePresentingHPOs: HP:0009711; HP:0006880 (retinal capillary hemangioma; cerebellar hemangioblastoma)

CaseHPOFreeText: patient had retinal capillary hemangioma diagnosed at 31Y and cerebellar hemangioblastoma diagnosed at 30Y

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

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Supplementary Table S1.

Variant: p.P61Rfs*5 (c.182_185delCCGT)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: N/A

CAID: CA658820712 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.182_185del

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_1_frameshift_variant

CivicName: P61FS (c.182_185delCCGT)

MultipleGeneVariants: N/A

DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:retinalcapillaryhemangioma:31 AgeOfPresentation:cerebellarhemangioblastoma:30 MutationType:minus_1_frameshift_variant ProteinPosition:61 AminoAcidChange:PROtoARG CivicName:P61FS(c.182_185delCCGT) cDNAposition:182 cDNAposition:185 NoFamilyInfo InheritancePattern:AutosomalDominant RefSeq:NM_000551.2 SupplementalData ExperimentalAssay Mutation:Germline inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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