Hypothesis

9 Frameshift p.(Lys159Glufs*15) 5 3

GroupID: 9

DiseaseAssertion: VHL

Group size: 8

GroupNumberMales: N/A

GroupNumberFemales: N/A

GroupEthnicity: N/A

GroupAgeRange: N/A

Group Info: Retrospective analysis of a longitudinal cohort of 21 VHL germline mutation carriers and retinal haemangioblastomas. All patients were categorized in two genotypic categories: missense mutations and truncating mutations. From this family, eight individuals were suspected of VHL disease. 5/8 individuals developed RH, while 3/8 did not.

GroupPresentingHPOs: HP:0009711 (retinal capillary hemangioma)

GroupHPOFreeText: Five patients presented with retinal capillary hemangioma.

GroupNotHPOs: N/A

GroupNotHPOFreeText: N/A

GroupPreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Table S1

Variant: p.L159Es*15 (c.473dup)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: N/A

CAID: CA432423097, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.473dup

gnomAD: N/A

VariantEvidence: Chr3(GRCh37): g.10191480dup

MutationType: duplication; plus_1_frameshift_variant

CivicName: L159Es*15 (c.473dup)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Mutation:Germline MutationType:duplication MutationType:plus_1_frameshift_variant AssumedRefSeq:NM_000551.3 SupplementalData Familial CAID:CA432423097 CivicName:L159Es*15(c.473dup) cDNAPosition:473 AminoAcidChange:N/A ProteinPosition:159 DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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