63 Matching Annotations
  1. Last 7 days
    1. AD 9 38 F ? ? - - - - - c.340 ? 1 G[A p.G114D b

      PatientID: 9

      KindredID: AD

      Case: F, 38Y0M, Indian

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0001737 (Pancreatic cysts)

      CaseHPOFreeText: Multi-cystic pancreatic lesions.

      CaseNotHPOs: HP:0005584; HP:0002666; HP:0030393; HP:0009711; HP:0010797 (Renal cell carcinoma, Pheochromocytoma, Endolymphatic sac tumor, Retinal capillary hemangioma, Hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G114D (c.340+1G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223190, https://www.ncbi.nlm.nih.gov/clinvar/variation/223190/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant; missense_variant;transition

      CivicName: G114D (c.340+1G>A) and c.340+5G>C

      MultipleGeneVariants: N/A

    2. AD 8 34 F ? ? - - - - - c.340 ? 1 G[A p.G114D b

      PatientID: 8

      KindredID: AD

      Case: F, 34Y0M, Indian

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0001737 (Pancreatic cysts)

      CaseHPOFreeText: Multi-cystic pancreatic lesions.

      CaseNotHPOs: HP:0005584; HP:0002666; HP:0030393; HP:0009711; HP:0010797 (Renal cell carcinoma, Pheochromocytoma, Endolymphatic sac tumor, Retinal capillary hemangioma, Hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G114D (c.340+1G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223190, https://www.ncbi.nlm.nih.gov/clinvar/variation/223190/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant; missense_variant;transition

      CivicName: G114D (c.340+1G>A) and c.340+5G>C

      MultipleGeneVariants: N/A

    3. AD 14 50 F ? ? ? - ? - - c.340 ? 1 G[A, (340 ? 5 G[C) p.G114D b

      PatientID: 14

      KindredID: AD

      Case: F, 50Y0M, Indian

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797; HP:0001737; HP:0005584 (Hemangioblastoma, Pancreatic cysts, Renal cell carcinoma)

      CaseHPOFreeText: Multi-cystic pancreatic lesions, RCC and CNS hemangioblastoma.

      CaseNotHPOs: HP:0009711; HP:0002666; HP:0030393 (Retinal capillary hemangioma, Pheochromocytoma, Endolymphatic sac tumor)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G114D (c.340+1G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223190, https://www.ncbi.nlm.nih.gov/clinvar/variation/223190/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant; missense_variant;transition

      CivicName: G114D (c.340+1G>A) and c.340+5G>C

      MultipleGeneVariants: Germline, VHL, c.340+5G>C

    1. PatientID: None (Daughter)

      KindredID: 25

      Case: M, Age Unknown, Korean

      DiseaseAssertion: VHL

      FamilyInfo: Familial VHL. Two sons and a daughter presented with the same VHL germline mutation. All of these children presented with CNS hemangioblastomas. One of these sons also had renal cell carcinoma and was noted to have further unspecified phenotypes. His sister also had co-occurring unspecified phenotypes.

      CohortInfo: 26 Korean patients with more than one HAB in the CNS or eye, a single HAB in the CNS or retina plus a visceral manifestation (multiple renal, pancreatic or hepatic cysts, pheochromocytoma and RCC) and positive family history plus any one of the above manifestations.

      CasePresentingHPOs: HP:0010797 (Hemangioblastoma)

      CaseHPOFreeText: Multiple or bilateral CNS hemangioblastomas. Other phenotypes presented but not specified (one or more of: pancreatic cyst or tumor, renal or hepatic cyst). Diagnosed with VHL Type 1.

      CaseNotHPOs: HP:0002666; HP:0009711; HP:0005584 (Pheochromocytoma, Retinal capillary hemangioma, Renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.340+5G>C

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 36901, https://www.ncbi.nlm.nih.gov/clinvar/variation/36901/

      CAID: N/A

      gnomAD: 0.01119, https://gnomad.broadinstitute.org/variant/3-10183876-G-C?dataset=gnomad_r2_1

      VariantEvidence: This variant has a large allele frequency and therefore is likely non disease causing (polymorphism).

      MutationType: missense_variant;transversion; splice_site_variant

      CivicName: Splice Region (c.340+5G>C)

      MultipleGeneVariants: N/A

    1. A 42-year-old man was admitted to our Urology unit with a one-year history of repeating left lumbago. Ten years ago, this patient received gamma knife treatment for cerebral hemangioblastomas. There was no history of hypertension disease (blood pressure at admission: 134/79mmHg). Eyesight and fundus examinations were normal.Prior to the operation, levels of blood creatinine and urea nitrogen were normal (82 μmol/L and 6.05 mmol/L, respectively). However, the routine urine test showed an elevated level of RBCs with 9,298 cells per liter. Common tumor markers such as AFP, CEA, and PSA were normal. Magnetic resonance (MR) of the abdomen showed multiple solid lesions in the bilateral kidneys (53 mm was the largest diameter) with enhanced density after contrast, multilocular renal cysts, a right adrenal nodule, multiple cysts and a solid lesion in the pancreas (42.7 mm was the largest diameter), and multiple cysts in the liver with 2 highly vascular lesions located in the S7/8 and S2 sections (Fig. 1A and 1B). Special tests for adrenal lesions included plasma cortisol, renin angiotensin aldosterone, and urinary VMA, which were normal. The patient underwent 3 consecutive surgeries. The first surgery was partial nephrectomy that removed most of the tumors in the right kidney. Three weeks later, the second surgery removed most of the tumors on the surface of the left kidney, and radiofrequency ablation guided by ultrasound aided in treating the inner tumors. Two weeks after the second surgery, the patient received an emergency nephrectomy on the left side kidney due to a severe hemorrhage. Open in a separate windowFigure 1.Imaging findings of 2 patients. (A) and (B) Abdomen magnetic resonance (MR) of the brother (II:1) showed a solid lesion (1) and multiple cysts (2) in the pancreas; liver vascular lesion located in the S7/8 section (3); solid lesions (4) and multilocular renal cysts (5) in the kidney; and a right adrenal nodule (6). (C) Scrotum magnetic resonance (MR) of the brother (II:1) showed a malignant tumor in the right side epididymis (arrow). (D) Abdomen computed tomography (CT) of the sister (II:6) showed multiple cysts in the pancreas (7) and a right adrenal nodule (8).Pathologic reviews and an immunohistochemical test (IHC) were performed to confirm the diagnosis. Tumor sections from the right side kidney stained with hematoxylin and eosin (H&E) showed sheet-like, solid clear cells in the tumor lesions and cysts lined by clear cells with uniform nuclei in some areas (Fig. 2A and 2B). The pathological manifestations confirmed ccRCC concurrent with simple renal cysts. The left side kidney showed multilocular cysts lined by clear cells with plenty of plasm and high nuclear to cytoplasmic ratios by microscopy. Clusters of clear cells were present in the septal walls (Fig. 2C), and mcRCC was confirmed pathologically. The IHC staining of the bilateral kidney tumor was positive for CD10, CK and Vim (data not shown). Open in a separate windowFigure 2.Pathological images of the brother. (A) Clear cell renal cell carcinoma (ccRCC) from the right kidney. The tumor consists of sheet-like, solid clear cells (H&E 40×).The image in the yellow-boxed area displays part (B). Multilocular renal cysts with clear cell renal carcinoma from the right kidney. The yellow-boxed area displays a renal cyst that is lined by a single-layer of clear cells with uniform nuclei (H&E 100×). Additionally, the green-boxed area displays part of the ccRCC with sheet-like, solid clear cells. (C) Cystic renal cell carcinoma from the left kidney. Cysts are lined by clear cells with uniform nuclei. Clusters of clear cells are present in the septal walls (H&E 40×). The image in the yellow-boxed area displays the aggregates of similar-appearing clear cells scattered without permeating the septa and forming solid nodules (H&E 100×).During this patient's hospitalization, a mass was palpable in his right side scrotum, which had no tenderness, redness or itching. The scrotum MR suspected a malignant tumor on the right side epididymis (Fig. 1C). However, the patient refused to accept a biopsy of this mass.

      PatientID: II:1 (proband)

      KindredID: 1

      Case: M, 42Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: The proband presented with VHL Type 2B. Sister presented with features of VHL Type 2A including cerebral hemangioblastomas, a right adrenal nodule, multiple cysts in the pancreas, multiple cysts in the liver, two brain lesions. The younger brother and their deceased father had hemangioblastomas in the central nervous system and ocular diseases, respectively. Despite having no information of detailed clinical data, it is reasonable to assume that they had VHL diseases. The father was also blind, but the reasons are unknown. The mother had no history of disease. Pedigree: see Figure 3.

      CasePresentingHPOs: HP:0010797; HP:0005584; HP:0006770; HP:0030421 (Hemangioblastoma, Renal cell carcinoma, Clear cell renal cell carcinoma, Epididymal neoplasm)

      CaseHPOFreeText: Ten years prior (at the age of 32), the patient received gamma knife treatment for cerebral hemangioblastomas. Magnetic resonance (MR) of the abdomen showed multiple solid lesions in the bilateral kidneys, multilocular renal cysts, a right adrenal nodule, multiple cysts and a solid lesion in the pancreas, and multiple cysts in the liver. The pathological manifestations confirmed ccRCC concurrent with simple renal cysts. The left side kidney showed multilocular cysts lined by clear cells. Pathology confirmed the presence of clusters of clear cells. mcRCC was confirmed pathologically. Scrotum MR suspected a malignant tumor on the right side epididymis.

      CaseNotHPOs: HP:0000822; HP:0100631 (Hypertension, Neoplasm of the adrenal gland)

      CaseNotHPOFreeText: No history of hypertension disease. Common tumor markers such as AFP, CEA, and PSA were normal. Special tests for adrenal lesions included plasma cortisol, renin angiotensin aldosterone, and urinary VMA, which were normal.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.340+5G>C

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 36901, https://www.ncbi.nlm.nih.gov/clinvar/variation/36901/

      CAID: CA020288, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA020288

      gnomAD: 0.01119, https://gnomad.broadinstitute.org/variant/3-10183876-G-C

      VariantEvidence: Direct sequencing of DNA strands revealed 2 recurrent mutations of c.256C > T (p.P86S) and c.340 + 5G > C. Haplotype construction displayed that the c.256C > T (p.P86S) mutation in cis with c.340 + 5G > C were located on the disease haplotype. Bioinformatics analysis revealed that this mutation might severely destabilize the hydrophobic core of pVHL and cause VHL manifestations. This variant’s large allele frequency means this is likely non disease causing (not deleterious).

      MutationType: splice_site_variant

      CivicName: P86S (c.256C>T) and Splice Region (c.340+5G>C)

      MultipleGeneVariants: Germline, VHL, c.256C>T (p.Pro86Ser)

    1. Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected.

      GroupID/ KindredID: 139CA

      DiseaseAssertion: VHL

      GroupSize: N/A

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: This germline familial VHL mutation was taken from the Cambridge, Department of Pathology database, with an unknown number of members belonging to Family ID 139CA. Table 3 lists all ID and mutations associated with individuals possessing renal carcinoma, without pheochromocytoma.

      GroupPresentingHPOs: HP:0005548 (renal cell carcinoma)

      GroupHPOFreeText: Described as a VHL family with RCC, without pheochromocytoma. Other phenotypes are likely, however not detailed in this publication

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.340+5G>C

      LegacyVariant: (c.553+5G>C)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 36901 https://www.ncbi.nlm.nih.gov/clinvar/variation/36901/

      CAID: N/A

      gnomAD: 0.01119 https://gnomad.broadinstitute.org/variant/3-10183876-G-C

      VariantEvidence: This variant has a large allele frequency and therefore is likely non disease causing (polymorphism). This paper declares this cariant is predicted to compromise the Elongin-binding site either by truncating the protein or by location between codons 157 and 189.

      MutationType: splice_site_variant

      CivicName: Splice Region (c.340+5G>C)

      MultipleGeneVariants: N/A

    1. present on the allele inherited from his healthy mother (II.2).

      PatientID: II.2

      KindredID: 3

      Case: F, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Asymptomatic

      FamilyInfo: The patient passed down this mutation to her son (III.1) who was hemizygous for the VHL gene and presented with pancreatic cysts, retinal capillary hemangioma, and cerebellar hemangioblastoma. Her husband (II.1) had two different VHL mutations and presented with hemangioblastoma and pancreatic cysts. Refer to figure 1, pedigree C for family information.

      CohortInfo: Patients were registrants from the European-American Pheochromocytoma-Paraganglioma and German von Hippel-Lindau Disease Registries.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/SDHB/SDHD/SDHC

      PreviouslyPublished: May have been previously published in 11106358 and/or 7563486.

      SupplementalData: Yes, File 1 for methods.

      Variant: c.340+5G>C

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 36901 https://www.ncbi.nlm.nih.gov/clinvar/variation/36901/

      CAID: N/A

      gnomAD: 0.01119 https://gnomad.broadinstitute.org/variant/3-10183876-G-C

      VariantEvidence: N/A

      MutationType:splice_site_variant

      CivicName: Splice Region (c.340+5G>C)

      MultipleGeneVariants: N/A

    1. another affected relative [III-A, in the pedigree]

      PatientID: III-A

      KindredID: 1

      Case: M, 30Y0M, EthnicityUnknown

      DiseaseAssertion: VHL

      FamilyInfo: Multiple first- and second-degree relatives affected with similar phenotypes. Of these, he is genetically tested and found to share VHL mutations with his uncle (proband).

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Paper asserts that this individual presented with VHL phenotypes but does not specify which.

      CaseNotHPOs: NA

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Information obtained from Figure 1

      Variant: p.L158Q (c.473T>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 376048, https://www.ncbi.nlm.nih.gov/clinvar/variation/376048/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: P86S (c.256C>T) and Splice Region (c.340+5G>C)

      MultipleGeneVariants: Germline, VHL, c.340+5G>C

    1. Disease-associated genetic abnormalities were identified in all of the seven families examined.

      PatientID: sister

      KindredID: C

      Case: F, 34Y0M, Chinese

      DiseaseAssertion: assumed VHL

      FamilyInfo: Family history is positive. Patient’s sister, and son all had the splice mutation, two with CNS hemangioblastomas and one with pheochromocytoma

      CasePresentingHPOs: HP:0010797; HP:0009715 (hemangioblastoma, papillary cystadenoma of the epididymis)

      CaseHPOFreeText: Patient had multiple hemangioblastoma of the CNS diagnosed at 34Y, and adnexal papillary cystadenoma of probable mesonephric origin diagnosed at 35Y

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.340+5G>C

      LegacyVariant: c.553+5G>C

      CaseProblemVariantFreeText: N/A

      ClinVarID: 36901, https://www.ncbi.nlm.nih.gov/clinvar/variation/36901/

      CAID: N/A

      gnomAD: 0.01119 https://gnomad.broadinstitute.org/variant/3-10183876-G-C

      VariantEvidence: This variant’s large allele frequency means this is likely non disease causing (not deleterious).

      MutationType: splice_site_variant

      CivicName: Splice Region (c.340+5G>C)

      MultipleGeneVariants: N/A

  2. Oct 2026
    1. Disease-associated genetic abnormalities were identified in all of the seven families examined.

      PatientID: proband

      KindredID: C

      Case: F, 29Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: Family history is positive. Patient’s sister, and nephew all had the splice mutation, and sister and nephew had CNS hemangioblastomas and adnexal papillary cystadenoma of probable mesonephric origin, and pheochromocytoma phenotypes. Her daughter was asymptomatic and did appear to not carry the mutation.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: Patient had multiple hemangioblastoma of the CNS diagnosed at 29Y

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.340+5G>C

      LegacyVariant: c.553+5G>C

      CaseProblemVariantFreeText: N/A

      ClinVarID: 36901, https://www.ncbi.nlm.nih.gov/clinvar/variation/36901/

      CAID: N/A

      gnomAD: 0.01119 https://gnomad.broadinstitute.org/variant/3-10183876-G-C

      VariantEvidence: This variant’s large allele frequency means this is likely non disease causing (not deleterious).

      MutationType: splice_site_variant

      CivicName: Splice Region (c.340+5G>C)

      MultipleGeneVariants: N/A

    1. PatientID: 7

      KindredID: III

      Case: Sex Unknown, Age Unknown, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: Patient had three other family members with additional CNS hemangioblastomas and the same splice site mutation. Their one family member, patient 4, also presented with pancreatic tumors.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: Patient was recorded with 3 labelled CNS hemangioblastoma tumors (a, b, and c).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.340+5G>C

      LegacyVariant: c.553+5G>C

      CaseProblemVariantFreeText: N/A

      ClinVarID: 36901, https://www.ncbi.nlm.nih.gov/clinvar/variation/36901/

      CAID: N/A

      gnomAD: 0.01119 https://gnomad.broadinstitute.org/variant/3-10183876-G-C

      VariantEvidence: This variant’s large allele frequency means this is likely non disease causing (not deleterious). Mutation was predicted to compromise the elongin-binding region. Refer to table 3 for LOH information on VHL and ZAC1.

      MutationType: splice_site_variant

      CivicName: Splice Region (c.340+5G>C)

      MultipleGeneVariants: N/A

    2. PatientID: 6

      KindredID: III

      Case: Sex Unknown, Age Unknown, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: Patient had three other family members with additional CNS hemangioblastomas and the same splice site mutation. Their one family member, patient 4, also presented with pancreatic tumors.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.340+5G>C

      LegacyVariant: c.553+5G>C

      CaseProblemVariantFreeText: N/A

      ClinVarID: 36901, https://www.ncbi.nlm.nih.gov/clinvar/variation/36901/

      CAID: N/A

      gnomAD: 0.01119 https://gnomad.broadinstitute.org/variant/3-10183876-G-C

      VariantEvidence: This variant’s large allele frequency means this is likely non disease causing (not deleterious). Mutation was predicted to compromise the elongin-binding region. Refer to table 3 for LOH information on VHL and ZAC1.

      MutationType: splice_site_variant

      CivicName: Splice Region (c.340+5G>C)

      MultipleGeneVariants: N/A

    1. PatientID: None (Son 2)

      KindredID: 25

      Case: M, Age Unknown, Korean

      DiseaseAssertion: VHL

      FamilyInfo: Familial VHL. Two sons and a daughter presented with the same VHL germline mutation. All of these children presented with CNS hemangioblastomas. One of these sons also had renal cell carcinoma and was noted to have further unspecified phenotypes. His sister also had co-occurring unspecified phenotypes.

      CohortInfo: 26 Korean patients with more than one HAB in the CNS or eye, a single HAB in the CNS or retina plus a visceral manifestation (multiple renal, pancreatic or hepatic cysts, pheochromocytoma and RCC) and positive family history plus any one of the above manifestations.

      CasePresentingHPOs: HP:0005584; HP:0010797 (Renal cell carcinoma, Hemangioblastoma)

      CaseHPOFreeText: Multiple or bilateral CNS hemangioblastomas and renal cell carcinoma. Other phenotypes presented but not specified (one or more of: pancreatic cyst or tumor, renal or hepatic cyst). Diagnosed with VHL Type 1. Phenotypes revised from previous reports (see “PreviouslyPublished” section below for PMID).

      CaseNotHPOs: HP:0002666; HP:0009711 (Pheochromocytoma, Retinal capillary hemangioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 19270817 and/or 19949673

      SupplementalData: N/A

      Variant: c.340+5G>C

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 36901, https://www.ncbi.nlm.nih.gov/clinvar/variation/36901/

      CAID: N/A

      gnomAD: 0.01119, https://gnomad.broadinstitute.org/variant/3-10183876-G-C?dataset=gnomad_r2_1

      VariantEvidence: This variant has a large allele frequency and therefore is likely non disease causing (polymorphism).

      MutationType: missense_variant;transversion; splice_site_variant

      CivicName: Splice Region (c.340+5G>C)

      MultipleGeneVariants: N/A

    1. AD 7 27 M ? ? - - - - - c.340 ? 1 G[A p.G114D b

      PatientID: 7

      KindredID: AD

      Case: M, 27Y0M, Indian

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0001737 (Pancreatic cysts)

      CaseHPOFreeText: Multi-cystic pancreatic lesions.

      CaseNotHPOs: HP:0005584; HP:0002666; HP:0030393; HP:0009711; HP:0010797 (Renal cell carcinoma, Pheochromocytoma, Endolymphatic sac tumor, Retinal capillary hemangioma, Hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G114D (c.340+1G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223190, https://www.ncbi.nlm.nih.gov/clinvar/variation/223190/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant; missense_variant;transition

      CivicName: G114D (c.340+1G>A) and c.340+5G>C

      MultipleGeneVariants: N/A

    2. AD 13 50 M ? ? - - ? - - c.340 ? 1 G[A p.G114D b

      PatientID: 13

      KindredID: AD

      Case: M, 50Y0M, Indian

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0005584; HP:0001737 (Renal cell carcinoma, Pancreatic cysts)

      CaseHPOFreeText: Multi-cystic pancreatic lesions, RCC.

      CaseNotHPOs: HP:0002666; HP:0030393; HP:0009711; HP:0010797 (Pheochromocytoma, Endolymphatic sac tumor, Retinal capillary hemangioma, Hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G114D (c.340+1G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223190, https://www.ncbi.nlm.nih.gov/clinvar/variation/223190/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant; missense_variant;transition

      CivicName: G114D (c.340+1G>A) and c.340+5G>C

      MultipleGeneVariants: N/A

    1. GroupID: 42

      DiseaseAssertion: assumed VHL

      GroupSize: 3

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: 3 of the 573 patients discussed in this paper were found to have identical variants. This mutation was found in 1 VHL family with 3 patients.

      GroupPresentingHPOs: HP:0009711; HP:0006880; HP:0002666 (retinal capillary hemangioma, cerebellar hemangioblastoma, pheochromocytoma)

      GroupHPOFreeText: 2 had retinal hemangioblastoma at a mean age of 16Y, one had cerebellar hemangioblastoma at 16Y, and 1 had pheochromcytoma at 14Y.

      GroupNotHPOs: HP:0005584 (renal cell carcinoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table S1.

      Variant: c.340+5G>C

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 36901, https://www.ncbi.nlm.nih.gov/clinvar/variation/36901/

      CAID: N/A

      gnomAD: 0.01119 https://gnomad.broadinstitute.org/variant/3-10183876-G-C

      VariantEvidence: This variant’s large allele frequency means this is likely non disease causing (not deleterious).

      MutationType: splice_site_variant

      CivicName: Splice Region (c.340+5G>C)

      MultipleGeneVariants: N/A

  3. Mar 2024
    1. European governments have thus been pushingfor reduced reliance on China’s Huawei forcritical parts of telecommunication networks inthe shift from 4G to 5G networks.

      The article calls 'a 5g moment' the moment of realisation that dependencies in a tech may erode strategic position, by letting critical infrastructure to be controlled by tech firms that can be influenced by other governments. In the case of 5g it's Huawei and Chinese gov, in the case of cloud it's GAM and US gov. This is not a new notion, it is why the EU digital and data legal framework was created the past 4 yrs, so why this paper now?

  4. Nov 2023
  5. Sep 2023
  6. May 2023
    1. a Network Slice instance can be associated with one or more S-NSSAIs, and an S-NSSAI can be associated with one or more Network Slice instances

      S-NSSAI and Network Slice instance doesn't have a one-to-one relationship.

    1. If UE unaware indication is received by AMF, and the UE is in CM_IDLE state or in RRC_INACTIVE state (if known by AMF by requesting the NG-RAN to report RRC state information), the steps 5 - 9 are skipped.

      如果AMF接收到UE unaware indication,并且UE处于CM_IDLE状态或RRC_INACTIVE状态(如果AMF通过请求NG-RAN报告RRC状态信息得知),则步骤5至步骤9将被跳过。

      UE unaware indication是指在位置服务过程中,LCS客户端(Location Services Client)向AMF(Access and Mobility Management Function)发送的指示,用于表明该LCS客户端不需要知道UE(User Equipment)的具体状态或活动信息

    2. Namf_Location_ProvidePositioningInfo

      GMLC通过与目标UE所连接的AMF之间的接口进行通信,发起Namf_Location_ProvidePositioningInfo服务操作。该操作的目的是向AMF请求获取UE的当前位置信息。

      在服务操作中,GMLC提供了目标UE的SUPI作为标识符,以便AMF能够识别和定位目标UE。此外,GMLC还可以提供关于所需的服务质量、UE未知指示和Supported GAD shapes的信息,以便AMF根据需求进行定位操作。

      Namf_Location_ProvidePositioningInfo服务操作的结果将包含UE的当前位置信息。AMF将根据请求进行位置测量和计算,并将结果返回给GMLC,以便GMLC可以获取目标UE的位置数据。

      需要注意的是,步骤4中的Namf_Location_ProvidePositioningInfo服务操作是用于向AMF请求获取UE的当前位置信息。该操作是整个位置服务流程的一部分,旨在从网络中获取目标UE的实时位置数据

    3. The GMLC invokes a Nudm_UECM_Get service operation towards the home UDM of the target UE to be located with the GPSI or SUPI of this UE.

      GMLC使用目标UE的GPSI或SUPI作为参数,通过与目标UE归属家庭UDM之间的接口进行通信,发起Nudm_UECM_Get服务操作。这个操作的目的是向家庭UDM请求获取与目标UE相关的用户订阅和配置信息

    4. The external location services client sends a request to the GMLC for a location for the target UE identified by an GPSI or an SUPI. The request may include the required QoS, UE unaware indication and Supported GAD shapes. If location is required for more than one UE, the steps following below may be repeated and in that case the GMLC shall verify whether the number of Target UEs in the LCS request is equal to or less than the Maximum Target UE Number of the LCS client. If Maximum Target UE Number is exceeded, the GMLC shall reject the LCS request, the step 2-10 are skipped, and then GMLC respond to the client with proper error cause in the step 11.

      外部位置服务客户端向GMLC(Gateway Mobile Location Centre)发送一个请求,以获取由GPSI或SUPI标识的目标UE的位置信息。该请求可以包括所需的位置服务质量(QoS)、UE无感知指示和支持的位置辅助数据(GAD)形状。

      如果需要为多个目标UE获取位置信息,则可以重复以下步骤。在这种情况下,GMLC需要验证LCS请求中的目标UE数量是否等于或小于LCS客户端的最大目标UE数量。如果超过了最大目标UE数量,GMLC将拒绝LCS请求,并跳过步骤2-10,然后在步骤11中向客户端回复适当的错误原因。 简单来说,这段描述描述了以下过程:

      1.外部位置服务客户端向GMLC发送位置请求,请求获取由GPSI或SUPI标识的目标UE的位置信息。

      2.GMLC接收到位置请求后,验证LCS请求中的目标UE数量是否超过LCS客户端的最大目标UE数量。

      3.如果目标UE数量符合要求,GMLC继续执行步骤2-10;如果目标UE数量超过最大限制,GMLC拒绝LCS请求并跳过步骤2-10。

      4.在步骤2-10中,GMLC执行相应的操作,包括根据请求中的参数和配置获取目标UE的位置信息。

      5.GMLC将获取的位置信息作为响应发送回外部位置服务客户端。

      6如果LCS请求被拒绝(因为目标UE数量超过最大限制),GMLC将在步骤11中向客户端回复适当的错误原因,指示无法处理该请求。

      这个过程描述了外部位置服务客户端向GMLC发送位置请求并获取目标UE位置信息的流程,同时对目标UE数量进行了验证和限制。

    5. illustrates the general network positioning for the LCS clients external to the PLMN for the regulatory location service for non-roaming scenario. In this scenario, it is assumed that the target UE is identified using an SUPI or GPSI.

      展示了非漫游场景下,监管位置服务中位于PLMN外部的LCS客户端的一般网络定位情况。在这种情景中,假设目标UE是使用SUPI(Subscriber Permanent Identifier)或GPSI(Global Public Subscriber Identity)进行标识。

      这种场景可以类比为派出所或其他执法机构发送请求来获取手机位置的情况。在监管位置服务中,监管机构(如执法机构、安全机构或紧急响应机构)可以向移动网络提供商发送位置请求,以获取目标手机的位置信息。

      SUPI(Subscriber Permanent Identifier):SUPI是一个订阅者永久标识符,用于唯一标识一个移动网络用户。它是由移动网络运营商分配给用户的,通常与用户的SIM卡或eSIM关联。SUPI可以包含国家码、移动网络码和用户标识等信息,以便在移动网络中唯一识别用户。

      GPSI(Global Public Subscriber Identity):GPSI是一个全球公共订阅者标识,用于在全球范围内唯一标识一个移动网络用户。GPSI是由国际移动设备身份(IMEI)与国际移动用户识别码(IMSI)的组合形成的。IMEI用于标识移动设备,而IMSI用于标识移动网络用户。通过将IMEI和IMSI组合在一起,可以生成一个全球唯一的GPSI,用于跨多个移动网络识别用户。

  7. Nov 2021
  8. Jun 2021
  9. Sep 2020
  10. Aug 2020
  11. Jun 2020
  12. May 2020
  13. Apr 2020