Hypothesis

17 (22%) had frameshift variants

PatientID: 14

KindredID: 14

Case: Sex Unknown, Age Unknown, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0010797; HP:0006770; HP:0100634 (hemangioblastoma; clear cell renal cell carcinoma; Neuroendocrine neoplasm)

CaseHPOFreeText: patient had CNS hemangioblastoma, ccRCC and a neuroendocrine neoplasm reported as pheochromocytoma/paraganglioma.

CaseNotHPOs: HP:0030405; HP:0009711; HP:0030421 (pancreatic neuroendocrine neoplasm, retinal capillary hemangioma, Epididymal neoplasm)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Yes; see table S1 for VHL subject genetic and manifestation information.

Variant: p.V130Wfs*30 (c.385_386dup)

LegacyVariant: N/A

CaseProblemVariantFreeText: p.Leu128fs (c.385_386dupCT) does not verify. Contacted authors for clarification and confirmation of c.385_386dup; p.Val130Trpfs*30 as the correct mutation

ClinVarID: N/A

CAID: CA2573130306 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.385_386dup

gnomAD: N/A

VariantEvidence: N/A

MutationType: plus_1_frameshift_variant

CivicName: V130Wfs*30 (c.385_386dup)

MultipleGeneVariants: N/A

DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:neuroendocrineneoplasm CivicName:V130Wfs*30(c.385_386dup) cDNAposition:385 MutationType:plus_1_frameshift_variant ProteinPosition:130 AminoAcidChange:VALtoTRP ClinVarID:N/A Mutation:Germline NoFamilyInfo SupplementalData RefSeq:NM_000551.3 CAID:CA2573130306 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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