Hypothesis

Somatic 1a 1 c.163delG Stop at V66 Known

PatientID: HGB-25

KindredID: 6

Case: Sex Unknown, 61Y0M, Italian

DiseaseAssertion: VHL

FamilyInfo: Positive VHL family history.

CohortInfo: The patient cohort consisted of 57 patients (26 male and 31 female) from Southern Italy, most of whom (55 of 57) presented with solitary HGB of the CNS: 6 were syndromic and 51 were apparently sporadic.

CasePresentingHPOs: HP:0006880 (cerebellar hemangioblastoma)

CaseHPOFreeText: The patient had a single cerebellar hemangioblastoma that was diagnosed at age 53.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: 29941223

SupplementalData: N/A

Variant: p.E55Rfs*12 (c.163delG)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID:428800 https://www.ncbi.nlm.nih.gov/clinvar/variation/428800/?new_evidence=false

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType:minus_1_frameshift_variant

CivicName:CivicName:P25L(c.74C>T)andD126Rfs*6(c.375_376insA)andE55Rfs(c.163delG)

MultipleGeneVariants: Somatic, VHL, c.375insA (Asn131Ter) Germline, VHL, c.74C>T (p.Pro25Leu)

InheritancePattern:AutosomalDominant DiseaseEntity:VHL Familial Ethnicity:Italian DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:Cerebellarhemangioblastoma:53 MultipleVHLVariants ClinVarID:428800 ClinVarID:Yes MutationType:minus_1_frameshift_variant Mutation:Somatic cDNAposition:163 ProteinPosition:55 AminoAcidChange:GLUtoARG RefSeq:NM_000551.3 CivicName:P25L(c.74C>T)andD126Rfs*6(c.375_376insA)andE55Rfs(c.163delG) inferred_gene_hgnc:30832 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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