two cases
PatientID: None
KindredID: 2
Case: M, 53Y0M, Ethnicity Unknown
DiseaseAssertion: Assumed VHL
FamilyInfo: One of the patient’s 3 children, a 25Y female, was found to carry the mutation but was asymptomatic.
CasePresentingHPOs: HP:0006770; HP:0000107; HP:0001737 (Clear cell renal cell carcinoma, renal cysts, pancreatic cysts)
CaseHPOFreeText: The patient presented with ccRCC, a renal cyst and a pancreatic nodule. The patient was asymptomatic except for mild hearing loss. The patient is deceased.
CaseNotHPOs: HP:0010797; HP:0002666 (Hemangioblastoma, pheochromocytoma)
CaseNotHPOFreeText: There was no evidence of hemangioblastomas of the brain or spine on MRI. Additionally, there was also no evidence of PCC on biochemical analysis, normal abdominal imaging results were present, and no retinal angiomas were found.
CasePreviousTesting: SDHB, SDHC, SDHD
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: (c.-61_-51dup11)
LegacyVariant: N/A
CaseProblemVariantFreeText: The mutation was a duplication in the VHL 5’ UTR involving the promoter.
ClinVarID: 517152, http://www.ncbi.nlm.nih.gov/clinvar/variation/517152
gnomAD: 0.0002825, https://gnomad.broadinstitute.org/variant/3-10141782-C-CTCCGCCCCGCG?dataset=gnomad_r3
VariantEvidence: N/A
MutationType: 5_prime_UTR_variant
CivicName: c.-61_-51dup11
MultipleGeneVariants: N/A
