c.565delG
Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. One patient was found with this frameshift mutation in the VHL gene. The patient was 30Y at the last follow-up and presented with: cerebellar hemangioblastoma and renal cysts. Family history was not described. This cohort was published later in PMID 31087189.
c.565delG1 (1%)130HBc, Cr
PatientID: None
KindredID: 16
Case: Sex Unknown, 30Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: N/A
CohortInfo: All VHL mutation carriers of 18 years or older who underwent surveillance according to Dutch VHL guidelines between 1972 and 2012 in the VHL expertise centers University Medical Center Groningen (UMCG) and University Medical Center Utrecht (UMCU) were included. Patients with VHL-disease subtype 2C (pheochromocytoma only) were excluded.
CasePresentingHPOs: HP:0006880; HP:0000107 (Cerebellar hemangioblastoma, Renal cyst)
CaseHPOFreeText: VHL Type 1.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: 24132471
SupplementalData: Table 1
Variant: p.E189Kfs*13 (c.565del)
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: 625267, https://www.ncbi.nlm.nih.gov/clinvar/variation/625267/
CAID: N/A
gnomAD: N/A
VariantEvidence: N/A
MutationType: minus_1_frameshift_variant; deletion
CivicName: E189fs (c.565del)
MultipleGeneVariants: N/A