Hypothesis

80 23 c.422_440del19 p.Asn141IlefsX12 x x De novo Parents -

PatientID: 80

KindredID: 80

Case: Sex Unknown, 23Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: Parents were negative for the mutation. No phenotype details are noted for these family members.

CasePresentingHPOs: HP:0010797; HP:0000107 (Hemangioblastoma, Renal cyst)

CaseHPOFreeText: CNS hemangioblastoma and renal cystic lesion.

CaseNotHPOs: HP:0002666; HP:0006770; HP:0001732; HP:0009711 (Pheochromocytoma, Clear cell renal cell carcinoma, Abnormality of the pancreas, Retinal capillary hemangioma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Table S1, S2 and S3

Variant: p.N141Ifs*12 (c.422_440del)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA16621933, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.422_440del

gnomAD: N/A

VariantEvidence: N/A

MutationType: deletion; minus_1_frameshift_variant

CivicName: N141fs (c.422_440del)

MultipleGeneVariants: N/A

InheritancePattern:DeNovoAssertion DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcyst Mutation:Germline RefSeq:NM_000551.3 cDNAposition:422 ProteinPosition:141 AminoAcidChange:ASNtoILE ClinVarID:N/A CAID:CA16621933 MutationType:minus_1_frameshift_variant MutationType:deletion CivicName:N141fs(c.422_440del) deNovoConfirmed NonFamilial SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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