7 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions
    1
    1. ClingenBaseline 03 Nov 2026

      PatientID: 5800

      KindredID: 283

      Case: Sex Unknown, Age Unknown, French

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: Families were recruited from the French VHL Registry. Enrolment in the study required identification of the germline VHL mutation (currently 85% of the families included in the French VHL Registry) and available data regarding renal phenotype. A total of 126 families fulfilled these criteria.

      CasePresentingHPOs: HP:0005584 (Renal cell carcinoma)

      CaseHPOFreeText: Moderate renal disease (less than five solid lesions requiring surgical treatment, either unilateral or bilateral). Individual RCC phenotype is noted as positive.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: Paper states that this family is previously reported in PMID 12202531 and/or 9829912, where 1 individual with this mutation is reported in each. It is unclear if one or both of these previously reported individuals correspond to the current individual.

      SupplementalData: Phenotype and genotype information can be found in Supplementary Table S1.

      Variant: 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: Splice Site (c.340+1G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:French DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma Mutation:Germline RefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:223190 ClinVarID:Yes MutationType:splice_site_variant MutationType:missense_variant;transition CivicName:SpliceSite(c.340+1G>A) NoFamilyInfo SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/15300849/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The incidence of consecutive manifestations in Von Hippel-Lindau disease
    1
    1. ClingenBaseline 03 Nov 2026
      c.340 + 1G > A1 (1%)132HBr, HBc, HBsc, RCC, Cr, Cp

      PatientID: None

      KindredID: 7

      Case: Sex Unknown, 32Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: All VHL mutation carriers of 18 years or older who underwent surveillance according to Dutch VHL guidelines between 1972 and 2012 in the VHL expertise centers University Medical Center Groningen (UMCG) and University Medical Center Utrecht (UMCU) were included. Patients with VHL-disease subtype 2C (pheochromocytoma only) were excluded.

      CasePresentingHPOs: HP:0009711; HP:0006880; HP:0009713; HP:0005584; HP:0000107; HP:0001737 (Retinal capillary hemangioma, Cerebellar hemangioblastoma, Spinal hemangioblastoma, Renal cell carcinoma, Renal cyst, Pancreatic cysts)

      CaseHPOFreeText: VHL Type 1.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 24132471

      SupplementalData: Table 1

      Variant: 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

      CivicName: Splice Site (c.340+1G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:spinalhemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticcysts DiseaseEntity:renalcyst Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:223190 ClinVarID:Yes MutationType:splice_site_variant CivicName:SpliceSite(c.340+1G>A) NoFamilyInfo SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6560011/
  4. www.karger.com www.karger.com
    Growth Kinetics in Von Hippel-Lindau-Associated Renal Cell Carcinoma
    1
    1. ClingenBaseline 02 Nov 2026

      PatientID: 1

      KindredID: N/A

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: The authors evaluated 64 VHL patients (32 women and 32 men) with renal involvement of whom 54/64 had undergone renal surgery or a radiofrequency thermal ablation procedure for RCC. In 10/64 VHL patients, at least one or more RCC were diagnosed, however at the time of diagnosis an indication for treatment was not yet present. For all patients several CT/MRI scans existed for retrospective description of tumour growth kinetics.

      CasePresentingHPOs: HP:0005584 (Renal cell carcinoma)

      CaseHPOFreeText: This is a tumor resolution study (VHL patients were investigated based on the presence of renal tumors.) No other phenotypic information is available.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table S3 describes 9 patients with splice mutations, including this patient.

      Variant: c.340+1G>T

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA16621929, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.340%2B1G%3ET

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: Splice Site (c.340+1G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:VHL AssumedRefSeq:AF010238.1 DiseaseEntity:renalcellcarcinoma MutationType:splice_site_variant CivicName:SpliceSite(c.340+1G>T) ClinVarID:N/A CAID:CA16621929 NoFamilyInfo SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    karger.com/Article/Abstract/333348
  5. www.cancerjournal.net www.cancerjournal.net
    Adrenal adenoma in von Hippel–Lindau syndrome: A case report with review of literature
    1
    1. ClingenBaseline 31 Oct 2026
      A 29-year-old hypertensive male with genetic proven VHL syndrome came to the Endocrinology department for evaluation. There was neither any history of paroxysm of sweating or palpitation nor any stigmata of hypercortisolism. He had undergone surgery for cervical (C2–C3) hemangioblastoma 2 years back. His elder sister also had features suggestive of Type 1 VHL syndrome (cerebellar hemangioblastomas, RCC of the left kidney, bilateral renal cysts, and pancreatic serous cystic neoplasm). However, her adrenal glands were normal. None of the other family members have features suggestive of VHL syndrome.Noncontrast computed tomography of the abdomen of our patient revealed a well-defined hypodense (<10 Hounsfield Unit) lesion of 3.2 cm × 3 cm in the left adrenal gland having central necrosis. There was more than 50% washout in postcontrast delayed image suggestive of adrenal adenoma [Figure 1]. In bilateral kidneys, there were multiple hypodense lesions with intense enhancement (RCC) along with nonenhancing cystic areas (renal cysts). Pancreas also showed multiple well-defined fluid attenuating cysts. On hormonal evaluation, plasma-free metanephrine (51.1 pg/ml; Normal < 65 pg/ml) and free normetanephrine (87.3 pg/ml; Normal < 180 pg/ml) levels were within normal limits. Serum dehydroepiandrosterone sulfate (267 μg/dl; Normal 167–591 μg/dl) and electrolytes were also normal. Normal values of 8 am serum cortisol (16.89 μg/dl), midnight awake cortisol (1.96 μg/dl) and overnight 1 mg dexamethasone suppression test (0.81 μg/dl) ruled out the possibility of endogenous hypercortisolism. Although biochemically there was no evidence of pheochromocytoma, metaiodobenzylguanidine (MIBG) scintigraphy was done on high suspicion of it for an adrenal mass in an established case of VHL. However, MIBG scan failed to show any abnormal tracer uptake in the abdomen.Figure 1: Computed tomography scan of adrenal adenoma. (a) Plain computed tomography abdomen showing homogenous, well defined left adrenal mass. (b) Early postcontrast image showing peripheral enhancement of the left adrenal mass. (c) Delayed postcontrast image showing more than 50% washout of contrastClick here to viewThen, the patient underwent left-sided adrenalectomy after controlling hypertension. On gross examination of the adrenal mass, an encapsulated gray-brown lesion measuring 3 cm × 3 cm × 3 cm in size with areas of hemorrhage was found. On microscopic examination, the tumor cells with clear cytoplasm were arranged in a nesting pattern [Figure 2]a. There was no significant atypia of the tumor cells and mitotic figures were also absent. On immunohistochemistry, the tumor cells were positive for Inhibin and Melan A [Figure 2]b and [Figure 2]c and negative for synaptophysin, thereby confirming adrenocortical adenoma and excluding pheochromocytoma. The adjacent adrenal gland was normal. For the largest focus of RCC, right-sided partial nephrectomy was done 3 months later. On histopathological examination, the tumor was circumscribed and measured 4 cm × 3 cm × 2 cm in dimensions. The cut section showed areas of hemorrhage and congestion without any areas of necrosis. On microscopy, the tumor had a sharp demarcation from normal parenchyma and the renal capsule without any evidence of infiltration [Figure 3]a. The tumor cells had minimal atypia, abundant clear/vacuolated cytoplasm, low nuclear grade, and rare mitosis. The morphological features were compatible with the clear cell type of RCC [Figure 3]b.Figure 2: Histopathology of adrenal tumor. (a) H and E stain (×200) of adrenal tumor showing tumor cells with clear cytoplasm arranged in a nesting pattern. (b) Immunohistochemistry of Melan A (×100) of adrenal tumor showing diffuse cytoplasmic positivity in tumor cells. (c) Immunohistochemistry of Inhibin (×100) of adrenal tumor showing strong cytoplasmic positivity in tumor cellsClick here to viewFigure 3: Histopathology of renal tumor. (a) The low magnification image (H and E stain ×100) of renal tumor shows the sharp demarcation between the tumor (left side) and adjacent normal renal parenchyma (right side). (b) The high magnification image (H and E ×400) of renal tumor shows the tumor cells with clear cytoplasm, low nuclear grade, intricate capillary network and lakes of red blood cellsClick here to viewGenetic analysis of VHL gene in this patient revealed a heterogeneous 5' splice site variation of intron 1 of the VHL gene that affects splice site of exon 1 (c. 340 + 1G > A). This mutation was pathogenic for VHL syndrome and previously reported in a few cases.[4],[5],[6]

      PatientID: None

      KindredID: 1

      Case: M, 29Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: His elder sister also had features suggestive of Type 1 VHL syndrome (cerebellar hemangioblastomas, RCC of the left kidney, bilateral renal cysts, and pancreatic serous cystic neoplasm). However, her adrenal glands were normal. None of the other family members have features suggestive of VHL syndrome.

      CasePresentingHPOs: HP:0009713; HP:0000822; HP:0006770; HP:0005562; HP:0001737; HP:0008256 (Spinal Hemangioblastoma, Hypertension, Clear cell renal cell carcinoma, Multiple renal cysts, Pancreatic cysts, Adrenocortical adenoma)

      CaseHPOFreeText: CT of the abdomen revealed a lesion in the left adrenal gland having central necrosis. There was more than 50% washout in postcontrast delayed image suggestive of adrenal adenoma (later confirmed by immunohistochemistry to be an adrenocortical adenoma). In bilateral kidneys, there were multiple lesions with intense enhancement (RCC - morphological features were compatible with the clear cell type of RCC) along with nonenhancing cystic areas (renal cysts). Pancreas also showed multiple well-defined fluid attenuating cysts.

      CaseNotHPOs: HP:000266; HP:0001962; HP:0003118; HP:0001069 (Pheochromocytoma, Palpitations, Increased circulating cortisol level, Episodic hyperhidrosis)

      CaseNotHPOFreeText: No history of paroxysm of sweating or palpitation nor any stigmata of hypercortisolism. Immunochemistry excluded the possibility of the adrenal lesion being pheochromocytoma.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: 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

      CivicName: Splice Site (c.340+1G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:spinalhemangioblastoma DiseaseEntity:multiplerenalcysts DiseaseEntity:pancreaticcysts DiseaseEntity:hypertension DiseaseEntity:adrenocorticaladenoma AgeOfPresentation:clearcellrenalcellcarcinoma:29 AgeOfPresentation:pancreaticcysts:29 AgeOfPresentation:multiplerenalcysts:29 AgeOfPresentation:hypertension:29 AgeOfPresentation:adrenocorticaladenoma:29 Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:223190 ClinVarID:Yes MutationType:splice_site_variant CivicName:SpliceSite(c.340+1G>A) Familial cDNAposition:N/A inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    cancerjournal.net/article.asp
  6. Oct 2026
  7. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Endolymphatic sac tumor with von Hippel-Lindau disease: report of a case with analysis of von Hippel-Lindau gene and review
    1
    1. ClingenBaseline 29 Oct 2026
      Herein, we reported a case of ELST with VHL gene analysis who presented with a family history of VHL disease. The radiologic, histologic, and immunohistochemical features of the tumor were typical of ELST.

      PatientID: 1 (case)

      KindredID: 1

      Case: F, 33Y0M, Ethnicity Unknown

      DiseaseAssertion: endolymphatic sac tumor

      FamilyInfo: Her mother and elder sister had history of resection of cerebellar hemangioblastomas, although no genetic testing was done for them.

      CasePresentingHPOs: HP:0030393 (endolymphatic sac tumor)

      CaseHPOFreeText: Woman had progressive hearing disturbance, vertigo, and headache since 32Y. MRI revealed a 4.5 × 3.8 × 3.5-cm mass was detected in the right cerebellopontine angle, destroying the cerebellum. CT with a bone window mode demonstrated extensive destruction of the petrous bone and middle ear structures (endolymphatic sac tumor). The patient underwent craniotomy for a complete removal of the tumor. To date of publication, the patient remains well, with no evidence of recurrent tumor.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.340+1G>A

      LegacyVariant: 553 + 1G→A, designated as IVS1 + 1G→A mutation

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: No LOH was found in this sample

      MutationType: splice_site_variant

      CivicName: Splice site (c.340+1G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:endolymphaticsactumor Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:340 CivicName:SpliceSite(c.340+1G>A) MutationType:splice_site_variant ClinVarID:223190 ClinVarID:Yes Familial AgeOfPresentation:endolymphaticsactumor:32 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/20850701/
  8. jnnp.bmj.com jnnp.bmj.com
    The impact of molecular genetic analysis of theVHL gene in patients with haemangioblastomas of the central nervous system
    1
    1. ClingenBaseline 27 Oct 2026
      nt 553+1 G/A* splice defect 553+1 G/A Splice defect 1

      PatientID: 18

      GroupID/ KindredID: 18

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: hemangioblastoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: other phenotypes unknown.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.340+1G>A

      LegacyVariant: c.553+1G>A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: Splice Site (c.340+1G>A)

      MultipleGeneVariants: N/A

      DiseaseEntity:hemangioblastoma NoFamilyInfo Mutation:Germline ClinVarID:Yes ClinVarID:223190 AssumedRefSeq:AF010238.1 CivicName:SpliceSite(c.340+1G>A) cDNAposition:340 MutationType:splice_site_variant inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    jnnp.bmj.com/content/jnnp/67/6/758.full.pdf
  9. hccpjournal.biomedcentral.com hccpjournal.biomedcentral.com
    Mutations in the von hippel-lindau tumour suppressor gene in central nervous system hemangioblastomas
    1
    1. ClingenBaseline 22 Oct 2026
      IVS1+1G>A Splice Germline mutation

      PatientID: 37

      KindredID: 37

      Case: Age, sex, ethnicity unknown

      DiseaseAssertion: hemangioblastoma

      FamilyInfo: N/A

      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+1G>A

      CaseProblemVariantFreeText: N/A

      LegacyVariant: 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

      CivicName: Splice Site (c.340+1G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant AssumedRefSeq:NM_000551.3 Mutation:Germline DiseaseEntity:hemangioblastoma ClinVarID:223190 ClinVarID:Yes MutationType:splice_site_variant CivicName:SpliceSite(c.340+1G>A) cDNAposition:340 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    hccpjournal.biomedcentral.com/article/10.1186/1897-4287-2-2-93/tables/1