All germline mutations in VHL,
PatientID: V-PH-34T
KindredID: 6
Case: M, 40Y0M, Ethnicity Unknown
DiseaseAssertion: assumed VHL
FamilyInfo: A family history of VHL associated phenotypes was given. This patient is said to be the sibling of V-PH-33T with the germline VHL mutation: p.W117S (c.350G>C). V-PH-35T is also said to be a sibling, with the VHL mutation p.Arg161Ter.
CasePresentingHPOs: HP:0006748; HP0010797; HP:0100565 (adrenal pheochromocytoma, hemangioblastoma, hydromyelia)
CaseHPOFreeText: diagnosed with left adrenal phaeochromocytoma at age 40Y, surgery the same year. He also had a personal history including recurrent pheaochromocytoma and hemangioblastomas, and hydromyelia. He also had raised noradrenaline and normetanephrine levels
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: RET, SDHA, SDHB, SDHC, TMEM127
PreviouslyPublished: Likely; 26796762 (ID: RNSH10)
SupplementalData: Yes (see table S1 and S10)
Variant: p.R161* (c.481C>T)
LegacyVariant: N/A
CaseProblemVariantFreeText: Patient given as ENSP00000256474.2:p.Arg161Ter/ENSP00000256474.2:p.Arg200GlyfsTer2
ClinVarID: 2217, https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/
CAID: N/A
gnomAD: N/A
VariantEvidence: N/A
MutationType: stop_gained
CivicName: CivicName: R161* (c.481C>T) AND R200fs (c.598del)
MultipleGeneVariants: Germline, KIF1B, c.184-6_184-5del; Germline, KIF1B, c.608+8dup; Somatic, VHL, c.delC; Germline, VHL, c.598del (p.Arg200GlyfsTer2)