Germline mutations were found in 20 Brazilian, VHL probands and their families. The P102Rfs*57 (c.305del) germline mutation was found in a VHL type 1 patient with hemangioblastomas of the central nervous system, pancreatic cystadenoma, and renal carcinoma (VHL family 6). The patient had no family history. This variant was not found in 120 alleles from normal subjects in the Brazilian population.

PatientID: None

KindredID: 6

Case: Sex Unknown, Age Unknown, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: No family history of VHL. Parents underwent genetic testing and were not found to harbor the P102Rfs*57 (c.305del) germline variant of the VHL gene, confirming a de novo mutation in the current patient.

CasePresentingHPOs: HP:0010797; HP:0005584; HP:0002894 (Hemangioblastoma, Renal cell carcinoma, Neoplasm of the pancreas)

CaseHPOFreeText: CNS hemangioblastoma, pancreatic cystadenoma and Renal carcinoma.

CaseNotHPOs: HP:0009711; HP:0002894; HP:0002666 (Retinal capillary hemangioma, Neoplasm of the pancreas, Pheochromocytoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.P102Rfs*57 (c.305del)

LegacyVariant: N/A

CaseProblemVariantFreeText:

ClinVarID: N/A

CAID: CA658820710, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.305del

gnomAD: N/A

VariantEvidence: This variant was not found in 120 alleles from normal subjects in the Brazilian population.

MutationType: deletion; minus_1_frameshift_variant

CivicName: P102fs (c.305del)

MultipleGeneVariants: N/A