PatientID: 9

KindredID: 6

Case: F, 32Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: Three total family members presented with this germline variant in VHL. No phenotypes were reported for patients 6 and 7 of this family.

CohortInfo: A retrospective analysis of case notes of 17 patients was performed for this study. Initially, 23 consecutive patients with VHL disease followed by the Department of Endocrinology at St Bartholomew's Hospital since 1988 were reviewed.

CasePresentingHPOs: HP:0001732; HP:0000077; HP:0002666; HP:0009711; HP:0010797; HP:0002017; HP:0001082 (Abnormality of the pancreas, Abnormality of the kidney, Pheochromocytoma, Retinal capillary hemangioma, Hemangioblastoma, Nausea and vomiting, Cholecystitis)

CaseHPOFreeText: This patient developed upper abdominal pain, nausea and vomiting, which was attributed to gallstone cholecystitis based on ultrasound findings. Her symptoms settled on conventional treatment for cholecystitis.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.V155E (c.464T>A)

LegacyVariant: c.677T>A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA351756032, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.464T%3EA

gnomAD: N/A

VariantEvidence: Reported as: T677A, assumed to be in Legacy reference sequence (AF010238.1) and mapped to c.464T>A according to NM_000551.3 reference sequence.

MutationType: missense_variant;transversion

CivicName: V155E (c.464T>A)

MultipleGeneVariants: N/A