IV/16 (16)-----Ser80Ile
PatientID: IV-16
KindredID: 1
Case: M, 16Y0M, Hungarian
DiseaseAssertion: Asymptomatic
FamilyInfo: The patient had two unaffected siblings who did not carry the mutation. The patient's father (III-8) carried the mutation and had brain hemangioblastoma, pheochromocytoma, and retina hemangioblastoma. His paternal aunt (III-7) harboured the same mutation and had a brain hemangioblastoma and retina hemangioblastoma. Her children, this patient's cousins, also harboured the mutation and had clinical presentations of VHL. His other paternal aunt (III-6) carried a different VHL mutation, Pro25Leu, but was asymptomatic. The patient's paternal grandmother (II-5) also harboured the same mutation and presented with renal cell carcinoma. This patient's great aunt (II-1) carried two different VHL mutations; the Ser80Asn and Pro25Leu but herself was asymptomatic. She passed the Ser80Asn mutation to her daughter, the proband (III-1), who had renal cell carcinoma, brain hemangioblastoma, and pheochromocytoma. Refer to figure 1 for pedigree.
CasePresentingHPOs: N/A
CaseHPOFreeText: N/A
CaseNotHPOs: HP:0005584, HP:0002666, HP:0010797, HP:0009711 (renal cell carcinoma, pheochromocytoma, hemangioblastoma, retinal capillary hemangioma)
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.S80N (c.239G>A)
LegacyVariant: p.S80I (c.239G>A) *author mistake
CaseProblemVariantFreeText: N/A
ClinVarID:N/A
CAID: CA70046108 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.239G%3EA
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant;transition
CivicName: S80N (c.239G>A)
MultipleGeneVariants: N/A