Hypothesis

one nonsense VHL mutation was detected in a young patient with a solitary central nervous system hemangioblastoma without familial history.

PatientID: 22

KindredID: 22

Case: 13Y0M, Sex Unknown, Argentinian

DiseaseAssertion: hemangioblastoma

FamilyInfo: No family history

CasePresentingHPOs: HP:0010797 (hemangioblastoma)

CaseHPOFreeText: Aged 13Y at diagnosis (genetic testing); does not fulfil type 1 VHL clinical diagnosis. Solitary CNS angiomas diagnosed at 13Y (See Table 1 & 2).

CaseNotHPOs: N/A

CaseNotHPOFreeText: did not develop other manifestations of the disease during a 5- year follow-up.

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.W88* (c.264G>A)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 936684 https://www.ncbi.nlm.nih.gov/clinvar/variation/936684/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: stop_gained

CivicName: W88* (c.264G>A)

MultipleGeneVariants: N/A

ClinVarID:936684 ClinVarID:Yes Ethnicity:Argentinian DiseaseEntity:hemangioblastoma AgeOfPresentation:hemangioblastoma:13 Mutation:Germline RefSeq:NM_000551.3 CivicName:W88*(c.264G>A) cDNAposition:264 ProteinPosition:88 AminoAcidChange:TRPtoTER MutationType:stop_gained NonFamilial ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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