PatientID: 1654

KindredID: 1654

Case: Sex Unknown, 59Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: N/A

CohortInfo: 44 patients with renal cell carcinoma who had known industrial exposure to trichloroethylene (TRI).

CasePresentingHPOs: HP:0005584 (Renal cell carcinoma)

CaseHPOFreeText: The patient had TRI exposure at age 25 and was diagnosed with renal cell carcinoma at age 59.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.V87Gfs*71(c.260_263del)

LegacyVariant: p.V87Gfs*71(c.473_476del)

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID:CA2573320242 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573320242

gnomAD: N/A

VariantEvidence: The patient had LOH.

MutationType: minus_2_frameshift_variant

CivicName: V87Gfs*71(c.260_263del)

MultipleGeneVariants: Germline, VHL, c.241C>T (Pro81Ser)

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

GroupID: 7

Case: Age unknown, Sex unknown, French

DiseaseAssertion: VHL

FamilyInfo: None - one member documented here

CasePresentingHPOs: N/A

CaseHPOFreeText: other manifestations are not clearly stated.

CaseNotHPOs: HP:0009711 (retinal capillary hemangioma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: Possibly published in PMID:15300849

SupplementalData: N/A

Variant: p.P71Lfs*61 (c.211_212insT)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: N/A

CAID: CA2501268513 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2501268513

gnomAD: N/A

VariantEvidence: N/A

MutationType: plus_1_frameshift

CivicName: P71fs (c.211insT)

MultipleGeneVariants: N/A

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Spartacus was Thracian

AssayResult: 6.6

AssayResultAssertion: Normal

StandardErrorMean: 0.05

HGVS: NM_024675.3:c.3428T>C p.(Leu1143Pro)

AssayResult: 45.3

AssayResultAssertion: Abnormal

ReplicateCount: 31

StandardErrorMean: 5.1

Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1).

HGVS: NM_198056.2:c.5189C>A p.(Pro1730His)

Part V and §§.64, 65, 69, 71, 80, and 82 of the Constitution Act, 1867.

The SR-71 Blackbird is so awesome!