In 2012, A blood DNA sequencing analysis revealed a pathogenic VHL mutation c. 232A>T; p. Asn78Tyr in this patient.
PatientID: 3 (proband)
KindredID: 2
Case: F, 56Y0M, Ethnicity Unknown
DiseaseAssertion: assumed VHL
FamilyInfo: The same point mutation of VHL (c. 232A>T; p.Asn78Tyr) was identified in three family members including one sister, one brother and one nephew. Her sister was found with pancreatic NET and died of the hemorrhagic stroke at age of 40 years, and her brother and nephew refused for further examinations for VHL-related lesions. Her mother died of stroke at early of 50 years.
CasePresentingHPOs: HP:0030405, HP:0000107; HP:0005584 (pancreatic endocrine tumour, renal cyst, Renal cell carcinoma)
CaseHPOFreeText: at age 50, MRI scans revealed at least 3 lesions on her left kidney (recorded as bilateral RCC in August of 2011), and 3 lesions in her pancreas, which were stated to be pancreatic NETs.
CaseNotHPOs: HP:0006748, HP:0010797 (adrenal pheochromocytoma, cerebellar hemangioblastoma)
CaseNotHPOFreeText: MRI scan on brain was negative.
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.N78Y (c.232A>T)
LegacyVariant: N/A
ClinVar: 223167 https://www.ncbi.nlm.nih.gov/clinvar/variation/223167/
CAID: CA357056 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.232A%3ET
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant; transversion
CivicName: N78Y (c.232A>T)
MultipleGeneVariants: N/A