Hypothesis

VHL-3c.579–580delTGp.Val194 fsStop at codon 232this studyyesA1++––+Renal

PatientID: VHL-3

KindredID: 3

Case: Sex Unknown, Age Unknown, Italian

DiseaseAssertion: VHL

FamilyInfo: Family history of VHL. No further details provided.

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:0009711; HP:0000107; HP:0005584 (Hemangioblastoma, Retinal capillary hemangioma, Renal cyst, Renal cell carcinoma)

CaseHPOFreeText: CNS hemangioblastoma and clinical classification: A1.

CaseNotHPOs: HP:0002666; HP:0001732 (Pheochromocytoma, Abnormality of the pancreas)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.V194Afs*61 (c.579_580del)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA70052556, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.579_580del

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_2_frameshift_variant; deletion

CivicName: V194fs (c.579_580del)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Ethnicity:Italian DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcyst DiseaseEntity:renalcellcarcinoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:579 ProteinPosition:194 AminoAcidChange:VALtoALA ClinVarID:N/A CAID:CA70052556 MutationType:minus_2_frameshift_variant MutationType:deletion CivicName:V194fs(c.579_580del) Familial NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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