Of 246 patients affected with von Hippel-Lindau disease, 64 patients (26%) from 38 families had pheochromocytoma, including 33 newly diagnosed during screening studies and 31 treated before screening at NIH. Germline mutations in the VHL gene was determined from peripheral blood. Family 4339 were found with p.Arg176fs mutation (legacy notation c.739delA converted to NM_000551.3) in the VHL gene. Family 4339: 1/4 had pheochromocytoma, 4/4 had renal cell carcinoma, 1/4 had CNS hemangioblastoma, 1/4 had retinal angiomas, 1/4 had cysts. Individual patient phenotype-genotype was not described in the paper.

GroupID: 4339

DiseaseAssertion: VHL

GroupSize: 4

GroupNumberMales: N/A

GroupNumberFemales: N/A

GroupEthnicity: N/A

GroupAgeRange: N/A

GroupInfo: Each group represents a family.

GroupPresentingHPOs: HP:0010797; HP:0002666; HP:0005584; HP:0009711 (Hemangioblastoma, Pheochromocytoma, Renal cell carcinoma, Retinal capillary hemangioma)

GroupHPOFreeText: 1/4 members with pheochromocytoma, 1/4 members with CNS hemangioblastoma, 4/4 with renal carcinoma, 1/4 with retinal angioma and 1/4 with cysts. Diagnosed as a VHL Type 2B family.

GroupNotHPOs: N/A

GroupNotHPOFreeText: N/A

GroupPreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R176Gfs*26 (c.526del)

LegacyVariant: c.739delA

CaseProblemVariantFreeText: N/A

ClinVarID: 625257, https://www.ncbi.nlm.nih.gov/clinvar/variation/625257/

CAID: N/A

gnomAD: N/A

VariantEvidence: Variant reported as 739 del A (Frameshift), assumed to be reported in legacy nomenclature (AF010238.1) and mapped to c.526del, p.Arg176Glyfs*26 (NM_000551.3).

MutationType: deletion; minus_1_frameshift_variant

CivicName: R176Gfs*26 (c.526del)

MultipleGeneVariants: N/A

GroupID: 33

DiseaseAssertion: assumed VHL

GroupSize: 3

GroupNumberMales: N/A

GroupNumberFemales: N/A

GroupEthnicity: N/A

GroupAgeRange: N/A

GroupInfo: 3 of the 573 patients discussed in this paper were found to have the following mutation belonging to 2 families altogether. 

GroupPresentingHPOs: HP:0006880; HP:0005584; HP:0009711 (cerebellar hemangioblastoma; renal cell carcinoma; retinal capillary hemangioma)

GroupHPOFreeText: 1 patient had retinal angiomas diagnosed at age 18Y, 3 had cerebellar hemangioblastomas diagnosed at mean age of 18Y, and 1 had RCC diagnosed at 50Y

GroupNotHPOs: HP:0002666 (pheochromocytoma)

GroupNotHPOFreeText: N/A

GroupPreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Supplementary Table S1.

Variant: p.R176Gfs*26 (c.526delA) 

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 625257 https://www.ncbi.nlm.nih.gov/clinvar/variation/625257/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_1_frameshift_variant

CivicName: R176fs (c.526del) 

MultipleGeneVariants: N/A

PatientID: 7

KindredID: 7

Case: F, 34Y0M, Caucasian

DiseaseAssertion: VHL

FamilyInfo: Positive VHL family history.

CasePresentingHPOs: HP:0001732, HP:0030393, HP:0007850, HP:0012210 (abnormality of the pancreas, retinal vascular proliferation, abnormal renal morphology)

CaseHPOFreeText: N/A

CaseNotHPOs: HP:0002011 (Morphological central nervous system abnormality

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData:N/A

Variant: p.R176G (c.526delA)

LegacyVariant: p.R176G (c.739delA)

CaseProblemVariantFreeText: N/A

ClinVarID: 625257 https://www.ncbi.nlm.nih.gov/clinvar/variation/625257/

CAID: CA16602180 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.526delA

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_1_frameshift_variant

CivicName: R176G (c.526delA)

MultipleGeneVariants: N/A