8 M c.446A>C (N78T) Bilateral Positive (CNS) Positive
PatientID: 8
KindredID: 8
Case: M, Age Unknown, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: N/A
CasePresentingHPOs: HP:0000107; HP:0005584; HP:0010797; HP:0001737 (Renal cyst, Renal cell carcinoma, Hemangioblastoma, Pancreatic cysts)
CaseHPOFreeText: Bilateral RCC and renal cysts, CNS hemangioblastoma, positive for pancreatic cysts.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: Table 1
Variant: p.N78T (c.233A>C)
LegacyVariant: c.446A>C (N78T)
CaseProblemVariantFreeText: N/A
ClinVarID: 223168, https://www.ncbi.nlm.nih.gov/clinvar/variation/223168/
CAID: N/A
gnomAD: N/A
VariantEvidence: Variant is declared as “c.446A>C (N78T)” by the authors, this was treated as a legacy variant and mapped to c.233A>C, N78T. This study found coexpression of Epo and EpoR in 11 RCCs and in 10 benign renal cysts in a spectrum of VHL renal disease suggesting that Epo/EpoR coexpression is present in both benign and malignant stages of renal neoplasia. Six benign cysts stained for Epo but not EpoR. The researchers detected loss of heterozygosity of a wild-type VHL allele in different RCCs with microsatellite markers, D3S1110 and D3S2452, flanking the VHL gene
MutationType: missense_variant;transition
CivicName: N78T (c.233A>C)
MultipleGeneVariants: N/A