Hypothesis

8 Splice site Deletion exon 3 1 0

GroupID: 8

DiseaseAssertion: VHL

Group size: 1

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.

GroupPresentingHPOs: HP:0009711 (retinal capillary hemangioma)

GroupHPOFreeText: This patient presented with retinal capillary hemangioma.

GroupNotHPOs: N/A

GroupNotHPOFreeText: N/A

GroupPreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Table S1

Variant: Exon 3 Deletion (c.464-11 T>A)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: N/A

CAID: CA2573331912, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573331912

gnomAD: N/A

VariantEvidence: Chr3(GRCh37): g.10191460T>A; c.464-11 T>A (cDNA change)

MutationType: deletion; splice_site_variant

CivicName: Exon 3 deletion (c.464-11 T>A)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Mutation:Germline MutationType:splice_site_variant MutationType:deletion AssumedRefSeq:NM_000551.3 Familial SupplementalData cDNAPosition:464 AminoAcidChange:N/A ClinVarID:N/A DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma CAID:CA2573331912 CivicName:Exon 3 deletion(c.464-11 T>A) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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