Hypothesis

10412Y12Y13NNNNNc.500G>AExon 3p.Arg167GlnMissense

PatientID: 10

KindredID: 4

Case: M, 13Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: Four other family members were found to have the same mutation (Patients 6,7,8,9).

CasePresentingHPOs: HP:0002668, HP:0002666, HP:0030405 (Paraganglioma, pheochromocytoma, pancreatic endocrine tumor)

CaseHPOFreeText: The patient was diagnosed with a pancreatic endocrine tumor at age 13 it was found to be 0.7cm in size. He was diagnosed with pheochromocytoma and paraganglioma at age 12. He was found to have a right side pheochromocytoma measuring 5.5 cm and a left side pheochromocytoma measuring 1.5 cm. He was also found to have a paraganglioma measuring 2.2 cm.

CaseNotHPOs: HP:0009711, HP:0001737, HP:0000107, HP:0005584, HP:0010797 (retinal capillary hemangioma, pancreatic cysts, renal cyst, renal cell carcinoma, hemangioblastoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R167Q (c.500G>A)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVar: 2216 https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/

CAID: N/A

gnomAD: 0.000003977 https://gnomad.broadinstitute.org/variant/3-10191507-G-A

VariantEvidence:N/A

MutationType: missense_variant;transition

CivicName: R167Q (c.500 G >A)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:Paraganglioma DiseaseEntity:pheochromocytoma DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pheochromocytoma:12 AgeofPresentation:Paraganglioma:12 AgeOfPresentation:pancreaticendocrinetumor:13 Mutation:Germline MutationType:missense_variant;transition AssumedRefSeq:NM_000551.3 CivicName:R167Q(c.500G>A) cDNAposition:500 ProteinPosition:167 AminoAcidChange:ARGtoGLN ClinVarID:2216 ClinVarID:Yes Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation

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