PatientID: II-5

KindredID: B

Case: M, 25Y0M, Ethnicity Unknown

DiseaseAssertion: unknown

FamilyInfo: Two members were confirmed with this germline mutation (II-4 and II-5) c.462A>C and C to T transition at nucleotide 9. Blood from the father (I-1) and one sister (II-2) revealed no mutation. The paper states that the mother (I-2), and two siblings (II-3 and II-6) had died of VHL disease (no further information given though).

CasePresentingHPOs: N/A

CaseHPOFreeText: had clinical VHL manifestations which were not described

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.P154P (c.462A>C)

LegacyVariant: p.Leu to Leu (c.675A>C)

CaseProblemVariantFreeText: The tumor and blood samples from this patient also showed a C to T transition at nucleotide 9, but this nucleotide change did not alter the amino acid residue encoded and thus appeared to be a polymorphism

ClinVarID: N/A

CAID: CA16621934 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.462A%3EC

gnomAD: N/A

VariantEvidence: N/A

MutationType: synonymous_variant

CivicName: P154= (c.462A>C)

MultipleGeneVariants: N/A

All patients that were operated on between 1995 and 2010 in the University Medical Center Groningen from who frozen hemangioblastoma tissue was available in the tissue bank of the Department of Pathology were eligible. Through PCR (MSP) and MLPA, one patient sample was confirmed with a germline mutation (c.462A>C) in the VHL gene. The patients' manifestations was thus only stated as hemangioblastoma; No other phenotypic or demographic information was available. Note: This sample was likely duplicated in 24132471

A study of 103 patients with VHL retinal manifestations and 108 patients without VHL retinal manifestations extracted from the French VHL database revealed that the number of hemangioblastomas appeared higher in patients who had a substitution when compared with patients with a truncated protein. Detected by PCR and SSCP, this synonymous mutation (p.P154= (c.462A>C)) was found in a VHL patient with retinal hemangioblastomas. Other manifestations are not clearly stated. No family information was provided.

GroupID: 35

Case: Age unknown, Sex unknown, French

DiseaseAssertion: VHL

FamilyInfo: None - one member documented here

CasePresentingHPOs: HP:0009711 (retinal capillary hemangioma)

CaseHPOFreeText: other manifestations are not clearly stated.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.P154P (c.462A>C)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: N/A

CAID: CA16621934 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.462A%3EC

gnomAD: N/A

VariantEvidence: N/A

MutationType: synonymous_variant

CivicName: P154= (c.462A>C)

MultipleGeneVariants: N/A