Hypothesis

6 21.5 Retinal angioma, cysts of pancreas and kidney Yes Germline C to G base change at nucleotide 363 of exon 1, and G to T base change at −1 position of splice acceptor sequence for exon 3

PatientID: 6

KindredID: 6

Case: F, 21Y6M, ethnicity unknown

DiseaseAssertion: Assumed VHL

FamilyInfo: Positive history, with symptomatic father (no mutation known)

CasePresentingHPOs: HP:0006880; HP:0009711; HP:0001737; HP:0000107 (cerebellar hemangioblastoma; retinal capillary hemangioma; pancreatic cysts; renal cyst)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: c.464-1G>T

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: 223221 https://www.ncbi.nlm.nih.gov/clinvar/variation/223221/

CAID: N/A

gnomAD: N/A

VariantEvidence: Compound heterozygous: Germline C to G base change at nucleotide 150 of exon 1, and G to T base change at -1 position of splice acceptor sequence for exon 3

MutationType: splice_site_variant

CivicName: [A50= (c.150C>G) and] Splice Site (c.463-1G>T)

MultipleGeneVariants: Germline, VHL, c.150C>G (p.Ala50Ala)

InheritancePattern:AutosomalDominant DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:pancreaticcysts DiseaseEntity:renalcyst Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:464 ClinVarID:223221 ClinVarID:Yes MutationType:splice_site_variant CivicName:SpliceSite(c.463-1G>T) MultipleVHLVariants Familial CivicName:A50=(c.150C>G)andSpliceSite(c.463-1G>T) AgeOfPresentation:cerebellarhemangioblastoma:21 CompoundHeterozygous inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

Tags

Annotators

URL