Hypothesis

GroupID: 9

DiseaseAssertion: assumed VHL

GroupSize: 3

GroupNumberMales: N/A

GroupNumberFemales: N/A

GroupEthnicity: N/A

GroupAgeRange: N/A

GroupInfo: 3 of the 573 patients discussed in this paper were found to the mutation belonging to 1 family. This mutation was found in 1 VHL family with 3 patients.

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

GroupHPOFreeText: 2 patients had retinal angiomas diagnosed at a mean age of 15Y, 2 patients had cerebellar hemangioblastomas diagnosed at a mean age of 15Y, and 1 patient had RCCs with an age of diagnosis of 40Y.

GroupNotHPOs: HP:0002666 (pheochromocytoma)

GroupNotHPOFreeText: N/A

GroupPreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Supplementary Table S1.

Variant: p.S72Pfs*87 (c.214del)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: N/A

CAID: CA658795180 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.214del

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_1_frameshift_variant

CivicName: S72fs (c.214del)

MultipleGeneVariants: N/A

DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma AgeOfPresentation:renalcellcarcinoma:40 cDNAposition:214 AminoAcidChange:SERtoPRO ProteinPosition:72 CivicName:S72fs(c.214del) MutationType:minus_1_frameshift_variant CAID:CA658795180 ClinVarID:N/A Mutation:Germline ExperimentalAssay InheritancePattern:AutosomalDominant RefSeq:NM_000551.2 SupplementalData Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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