Hypothesis

201324N—Y24NYYYYc.541delGExon 3p.V181S fs*21Frameshift

PatientID: 20

KindredID: 13

Case: Sex Unknown, 24Y0M, Brazilian (Latino/Admixed American)

DiseaseAssertion: VHL

FamilyInfo: None

CasePresentingHPOs: HP:0030405; HP:0009711; HP:0000107; HP:0001737; HP:0010797 (pancreatic endocrine tumor, retinal capillary hemangioma, renal cyst, pancreatic cyst, hemangioblastoma)

CaseHPOFreeText: The patient at 24Y was confirmed with VHL. They developed PPGL at 24Y and also had the above manifestations

CaseNotHPOs: HP:0002668, HP:0002666; HP:0005584 (paraganglioma, pheochromocytoma, renal cell carcinoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.V181Sfs*21 (c.541delG)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: N/A

CAID: CA432423544 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.541delG

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_1_frameshift_variant

CivicName: V181fs (c.541delG)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pancreaticendocrinetumor:24 DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:NM_000551.3 CAID:CA432423544 ClinVarID:N/A cDNAposition:541 ProteinPosition:181 MutationType:minus_1_frameshift_variant AminoAcidChange:VALtoSER CivicName:V181fs(c.541delG) Ethnicity:Brazilian Ethnicity:Latino/AdmixedAmerican NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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