PatientID: 6

KindredID: 4 (D)

Case: M, 25Y0M, Hungarian

DiseaseAssertion: VHL

FamilyInfo: Patient was the only available member of the family. His father had died several years ago due to a central nervous system tumour, probably a complication of VHL disease

CasePresentingHPOs: HP:0006880; HP:0009713; HP:0006770 (cerebellar hemangioblastoma, spinal hemangioblastoma, clear cell renal cell carcinoma)

CaseHPOFreeText: Cerebellar and spinal cord hemangioma diagnoses.

CaseNotHPOs: HP:0002666; HP:0009711 (pheochromocytoma, retinal capillary hemangioma)

CaseNotHPOFreeText: No other manifestations of VHL disease were detected. See table 1.

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.Y185* (c.555C>A)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVar: N/A

CAID: CA351756378 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.555C%3EA

gnomAD: N/A

VariantEvidence: N/A

MutationType: stop_gained

CivicName: T185* (c.555C>A)

MultipleGeneVariants: N/A

GroupID/ KindredID: 88CA, 82CA

DiseaseAssertion: VHL

GroupSize: N/A

GroupNumberMales: N/A

GroupNumberFemales: N/A

GroupEthnicity: N/A

GroupAgeRange: N/A

GroupInfo: This germline familial VHL mutation was taken from the the Cambridge, Department of Pathology database. There was an unknown number of members belonging to Family IDs: 88CA and 82CA. Table 3 lists all ID and mutations associated with individuals possessing renal carcinoma, without pheochromocytoma.

GroupPresentingHPOs: HP:0005548 (renal cell carcinoma)

GroupHPOFreeText: Described as a VHL family with RCC, without pheochromocytoma. Other phenotypes are likely, however not detailed in this publication

GroupNotHPOs: HP:0002666 (pheochromocytoma)

GroupNotHPOFreeText: N/A

GroupPreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.Y185* (c.555C>G)

LegacyVariant: p.Y185* (c.768C>G)

CaseProblemVariantFreeText: N/A

ClinVarID: 223233 https://www.ncbi.nlm.nih.gov/clinvar/variation/223233/

CAID: N/A

gnomAD: N/A

VariantEvidence: This paper declares this variant is predicted to compromise the Elongin-binding site either by truncating the protein or by location between codons 157 and 189.

MutationType: stop_gained

CivicName: Y185* (c.555C>G)

MultipleGeneVariants: N/A

GroupID: 36

DiseaseAssertion: assumed VHL

GroupSize: 4

GroupNumberMales: N/A

GroupNumberFemales: N/A

GroupEthnicity: N/A

GroupAgeRange: N/A

GroupInfo: 4 of the 573 patients discussed in this paper were found to have the following mutation belonging to 3 families altogether.

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

GroupHPOFreeText: all 4 patients had retinal angiomas diagnosed at a mean age of 30Y and cerebellar hemangioblastomas diagnosed with a mean age of 25Y, and 2 had RCC diagnosed at a mean age of 29Y

GroupNotHPOs: HP:0002666 (pheochromocytoma)

GroupNotHPOFreeText: N/A

GroupPreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Supplementary Table S1.

Variant: p.Y185* (c.555C>G)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 223233 https://www.ncbi.nlm.nih.gov/clinvar/variation/223233/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: stop_gained

CivicName: Y185* (c.555C>G)

MultipleGeneVariants: N/A