Hypothesis

PatientID: 8

KindredID: 8

Case: M, 66Y0M, Korean

DiseaseAssertion: VHL

FamilyInfo: N/A

CohortInfo: 55 patients treated at Asan Medical Center in Korea treated between January 1995 and February 2013 clinically diagnosed with VHL disease and presenting with pancreatic lesions.

CasePresentingHPOs: HP:0001737, HP:0030405 (Pancreatic cysts, Pancreatic endocrine tumor)

CaseHPOFreeText: At age 56, the patient had a serous cystadenoma of the pancreas and a pancreatic endocrine tumour. A Pylorus-preserving pancreaticoduodenectomy was performed and the largest tumour resected was 40 mm. On follow up 170 months later the patient had no evidence of disease.

CaseNotHPOs: N/A

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 Ethnicity:Korean AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:pancreaticcysts DiseaseEntity:pancreaticendocrinetumor Mutation:Germline MutationType:missense_variant;transition NonFamilial ProteinPosition:167 CivicName:R167Q(c.500G>A) cDNAposition:500 AminoAcidChange:ARGtoGLN ClinVarID:2216 ClinVarID:Yes AgeofPresentation:pancreaticcysts:52 AgeOfPresentation:pancreaticendocrinetumor:52 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation

Tags

Annotators

URL