6 XY 39 Missense, T→C, 415 CNS, kidney, eye, metastases
PatientID: 6
KindredID: 6
Case: M, 39Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: N/A
CohortInfo: Six unrelated VHL patients with known germline VHL mutations underwent surgery for uni- or bilateral renal lesions.
CasePresentingHPOs: HP:0010797, HP:0005584, HP:0000107, HP:0009711(hemangioblastoma, renal cell carcinoma, renal cyst, retinal capillary hemangioma)
CaseHPOFreeText: The VHL disease affected this patient's CNS, kindey, and eye (not specified). The VHL disease had metastasized. The patient had 1 cyst, 5 solid low-grade passages, 9 solid high-grade passages, and 6 metastatic lymph node passages.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData:N/A
Variant: p.S68P(c.202T>C)
LegacyVariant: p.S68P(c.415T>C)
CaseProblemVariantFreeText: N/A
ClinVarID: N/A
CAID: CA16621912 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.202T%3EC
gnomAD: N/A
VariantEvidence: SKY of a high-grade VHL RCC from patient 6, lesion 5, reveals marked aneuploidy and nonreciprocal translocations including der(10)t(9;10), der(19)t(13;19), and der(2)t(2;3) as denoted by arrows.
MutationType: missense_variant;transition
CivicName: S68P (c.202T>C)
MultipleGeneVariants: N/A