PatientID: 2

KindredID: 2

Case: M, 40Y0M, Ethnicity Unknown

DiseaseAssertion: assumed VHL

FamilyInfo: N/A - family history was unremarkable. The paper states however that this patient inherited the duplication from a nonsymptomatic parent. Two siblings of patient 2, aged over 40 and also carriers of the same variant, underwent a thorough clinical evaluation, which was judged as negative.

CasePresentingHPOs: HP:0006880; HP:0011798 (cerebellar hemangioblastoma, renal oncocytoma)

CaseHPOFreeText: a 40-year-old male affected by cerebellar hemangioblastoma and renal oncocytoma

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: 21463266

SupplementalData: N/A

Variant: c.–65_–55dup11

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 517152 https://www.ncbi.nlm.nih.gov/clinvar/variation/517152/

CAID: N/A

gnomAD: 0.00009581 https://gnomad.broadinstitute.org/variant/3-10183466-C-CTCCGCCCCGCG

VariantEvidence: Quantitative Southern blot/real-time quantitative PCR analyses was normal in this patient. The 11 bp duplication is located within the promoter region of the VHL gene, in the vicinity of the main transcription initiation site, and within the binding site of several transcription factors. There is a possibility that the variant could alter transcription of the gene from the affected allele.

MutationType: 5_prime_UTR_variant

CivicName: c.–65_–55dup11

MultipleGeneVariants: N/A