Hypothesis

231616N—Y17NNYYYc.74C>Tb; 256C>A

PatientID: 23

KindredID: 16

Case: Sex Unknown, 17Y0M, Brazilian (Latino/Admixed American)

DiseaseAssertion: VHL

FamilyInfo: None

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

CaseHPOFreeText: The patient developed a 2.2 cm PNET at age 17. Patient was also recorded with all of the above manifestations

CaseNotHPOs: HP:0002668, HP:0002666; HP:0005584; HP:0000107 (Paraganglioma, pheochromocytoma, renal cell carcinoma, renal cyst)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.P86T (256C>A)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: N/A

CAID: CA351750624 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.256C%3EA

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: P25L (c.74C>T) and P86T (c.256C>A)

MultipleGeneVariants: Germline, VHL, c.74C>T (p.Pro25Leu)

InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:pancreaticcysts DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:pancreaticendocrinetumor:17 Mutation:Germline AssumedRefSeq:NM_000551.3 CAID:CA351750624 ClinVarID:N/A MutationType:missense_variant;transversion ProteinPosition:86 cDNAposition:256 CivicName:P25L(c.74C>T)andP86T(c.256C>A) CivicName:P86T(c.256C>A) AminoAcidChange:PROtoTHR NoFamilyInfo Ethnicity:Brazilian Ethnicity:Latino/AdmixedAmerican MultipleVHLVariants inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

Tags

Annotators

URL