GroupID: 96
DiseaseAssertion: VHL
GroupSize: 3
GroupNumberMales: N/A
GroupNumberFemales: N/A
GroupEthnicity: French
GroupAgeRange: N/A
GroupInfo: 3 members of this family are reported as carrying the c.211_212insT germline variant of the VHL gene. Members 5997 and 5993 have unknown renal involvement. Member 5999 presented with mild renal disease. Families were recruited from the French VHL Registry. Enrolment in the study required identification of the germline VHL mutation (currently 85% of the families included in the French VHL Registry) and available data regarding renal phenotype. A total of 126 families fulfilled these criteria.
GroupPresentingHPOs: HP:0009726 (Renal neoplasm)
GroupHPOFreeText: Mild renal disease (simple renal cyst, multicystic kidney[s], small lesion [less than 10 mm in size] of unknown significance, or small solid tumor without indication for surgical removal [less than 30 mm in size]).
GroupNotHPOs: N/A
GroupNotHPOFreeText: N/A
GroupPreviousTesting: N/A
PreviouslyPublished: Paper states that this family is previously reported in PMID 12202531, where 1 patient with this mutation is reported and assumed to be part of this family.
SupplementalData: Phenotype and genotype information can be found in Supplementary Table S1.
Variant: p.P71Lfs*61 (c.211_212insT)
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: N/A
CAID: CA2501268513, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.211_212insT
gnomAD: N/A
VariantEvidence: N/A
MutationType: plus_1_frameshift_variant; insertion
CivicName: P71Lfs*61 (c.211_212insT)
MultipleGeneVariants: N/A