Hypothesis

VHL-14c.463 + 1G > ASplicing mutation[4]noA2+–+–+Ovarian

PatientID: VHL-14

KindredID: 14

Case: Sex Unknown, Age Unknown, Italian

DiseaseAssertion: VHL

FamilyInfo: None.

CohortInfo: Forty-three index cases were referred to the Service of Medical Genetics, Genova, for germline mutation analysis in the VHL gene between 1995 and 2008.

CasePresentingHPOs: HP:0010797, HP:0001737, HP:0009711, HP:0000138 (hemangioblastoma, pancreatic cysts, retinal capillary hemangioma, ovarian cyst)

CaseHPOFreeText: N/A

CaseNotHPOs: HP:0005584, HP:0002666 (Renal cell carcinoma, pheochromocytoma )

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: c.463+1G>A

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 526679 https://www.ncbi.nlm.nih.gov/clinvar/variation/526679/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: splice_site_variant

CivicName: c.463+1G>A

MultipleGeneVariants: N/A

MutationType:splice_site_variant InheritancePattern:AutosomalDominant Ethnicity:Italian DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:ovariancyst cDNAposition:463 ClinVarID:526679 ClinVarID:Yes Mutation:Germline NonFamilial ProteinPosition:N/A AminoAcidChange:N/A CivicName:c.463+1G>A AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation

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