GroupID/ KindredID: VHL 13

Case: Sex unknown, Age unknown, German

DiseaseAssertion: assumed VHL

FamilyInfo: One patient with the given mutation is stated to belong to VHL family 13

CasePresentingHPOs: HP:0009711; HP:0010797; HP:0002666; HP:0000107; HP:0005584 (retinal capillary hemangioma, hemangioblastoma, pheochromocytoma, renal cyst, renal cell carcinoma)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R161G (c.481C>G)

CaseProblemVariantFreeText: N/A

LegacyVariant: p.R161G (c.694C>G)

ClinVarID: 618484 https://www.ncbi.nlm.nih.gov/clinvar/variation/618484

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant; transversion

CivicName: R161G (c.481C>G)

MultipleGeneVariants: N/A

In a study of 426 unrelated VHL patients, 111 were discovered to have alterations in the VHL gene. 18 novel variants were identified in VHL patients, but none were present in 200 unaffected control individuals. DNA samples from peripheral blood leukocytes underwent polymerase chain reaction (PCR) amplification, denaturing high-performance liquid chromatography (DHPLC), and direct sequence analysis of the entire coding sequence and intron-exon boundaries. The R161G (c.481C>G) germline missense mutation of the VHL gene was found in a 27 year old VHL patient with no family history, hemangioblastomas of the central nervous system and retinal hemangioblastomas and pheochromocytoma, and renal cysts (index case 5).