Hypothesis

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

InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:NM_000551 cDNAposition:233 ProteinPosition:78 AminoAcidChange:ASNtoTHR ClinVarID:223168 MutationType:missense_variant;transition CivicName:N78T(c.233A>C) NoFamilyInfo SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation

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