A cohort of 141 patients with hemangioblastomas of the central nervous system was analyzed. 81 patients had germline mutations in the VHL gene, analyzed through peripheral blood by Southern blotting and SSCP analysis. This mutation (p.W117Lfs*15) was recorded in the paper as c.559insT due to a difference in transcript sequence. It was found in one patient with a hemangioblastoma of the central nervous system. Any family information is unknown. No other phenotypes described.

PatientID: 20

GroupID/ KindredID: 20

Case: Sex Unknown, Age Unknown, Ethnicity Unknown

DiseaseAssertion: hemangioblastoma

FamilyInfo: N/A

CasePresentingHPOs: HP:0010797 (hemangioblastoma)

CaseHPOFreeText: other phenotypes unknown.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.W117Lfs*15 (c.346_347insT)

LegacyVariant: p.116 (c.559insT)

CaseProblemVariantFreeText: Variant Validator also states: NM_000551.3:c.346_347insT automapped to NM_000551.3:c.349dupT due to the redundancy of T in this area. Therefore p.W117Lfs*15 (c.349dupT) is equivalent

ClinVarID: N/A

CAID: CA432421788 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.346_347insT

gnomAD: N/A

VariantEvidence: N/A

MutationType: plus_1_frameshift_variant; duplication

CivicName: W117fs (c.349dupT)

MultipleGeneVariants: N/A