GroupID: 313
DiseaseAssertion: VHL
GroupSize: 3
GroupNumberMales: N/A
GroupNumberFemales: N/A
GroupEthnicity: French
GroupAgeRange: N/A
GroupInfo: 3 members of this family were found to harbor the c.340+1_340+5delGTACG germline variant of the VHL gene. Members 7171 and 7170 had unknown renal involvement. Member 5545 presented with severe renal disease (RCC). 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:0005584 (Renal cell carcinoma)
GroupHPOFreeText: Moderate renal disease (less than five solid lesions requiring surgical treatment, either unilateral or bilateral).
GroupNotHPOs: N/A
GroupNotHPOFreeText: N/A
GroupPreviousTesting: N/A
PreviouslyPublished: Paper states that this family is previously reported in PMID 9829912, where 1 individual is reported to have the “IVS1+1del5” splice site variant which is assumed to correspond to a member of the current family.
SupplementalData: Phenotype and genotype information can be found in Supplementary Table S1.
Variant: c.340+2_340+6del
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: N/A
CAID: CA357098, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.340%2B1_340%2B5del
gnomAD: N/A
VariantEvidence: Variant is reported as c.340+1_340+5del and was mapped to c.340+2_340+6del. Authors state that this mutation is predicted to disturb the splicing process.
MutationType: splice_site_variant; deletion; minus_2_frameshift_variant
CivicName: Splice Site (c.340+2_340+6del)
MultipleGeneVariants: N/A