7 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Characterization of VHL promoter variants in patients suspected of Von Hippel-Lindau disease
    3
    1. ClingenBaseline 05 Nov 2026
      two cases

      PatientID: None

      KindredID: 1

      Case: M, 38Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: The patient’s niece, age 27, presented with two right renal masses and several pancreatic cysts at 22Y. The patient’s brother, age 45, presented with right ccRCC and pancreatic cysts. Both the patient’s daughter and brother were found to carry the mutation the patient carried.

      CasePresentingHPOs: HP:0006770 (Clear cell renal cell carcinoma)

      CaseHPOFreeText: The patient presented with unilateral ccRCC.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: SDHB, SDHC, SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: (c.-77_-32del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: The mutation was a deletion in the VHL 5’ UTR, including the promoter.

      ClinVarID: 433541, http://www.ncbi.nlm.nih.gov/clinvar/variation/433541

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: 5_prime_UTR_variant

      CivicName: c.-77_-32del

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:clearcellrenalcellcarcinoma AgeOfPresentation:clearcellrenalcellcarcinoma:38 Mutation:Germline RefSeq:NM_000551.3 cDNAposition:-77_-32 ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:Yes ClinVarID:433541 MutationType:5_prime_UTR_variant CivicName:c.-77_-32del PreviousTesting:SDHB,SDHC,SDHD Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 04 Nov 2026
      two cases

      PatientID: None

      KindredID: 1

      Case: M, 45Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: The patient’s daughter, age 27, presented with two right renal masses and several pancreatic cysts at 22Y. The patient’s brother, age 38, presented with unilateral ccRCC. Both the patient’s daughter and brother were found to carry the mutation the patient carried.

      CasePresentingHPOs: HP:0006770; HP:0001737 (Clear cell renal cell carcinoma, pancreatic cysts)

      CaseHPOFreeText: The patient presented with right ccRCC and pancreatic cysts.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: SDHB, SDHC, SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: None(c.-77_-32del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: The mutation was a deletion in the VHL 5’ UTR, including the promoter.

      ClinVarID: 433541, http://www.ncbi.nlm.nih.gov/clinvar/variation/433541

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: 5_prime_UTR_variant

      CivicName: c.-77_-32del

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:pancreaticcysts AgeOfPresentation:clearcellrenalcellcarcinoma:45 AgeOfPresentation:pancreaticcysts:45 Mutation:Germline RefSeq:NM_000551.3 cDNAposition:-77_-32 ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:Yes ClinVarID:433541 MutationType:5_prime_UTR_variant CivicName:c.-77_-32del PreviousTesting:SDHB,SDHC,SDHD Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    3. ClingenBaseline 01 Nov 2026
      two cases

      PatientID: P1

      KindredID: 1

      Case: F, 27Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: The patient’s father, age 45, presented with right ccRCC and pancreatic cysts. The patient’s uncle, age 38, presented with unilateral ccRCC. Both the patient’s father and uncle were found to carry the mutation the patient carried.

      CasePresentingHPOs: HP:0009726; HP:0001737 (Renal neoplasm, pancreatic cysts)

      CaseHPOFreeText: The patient presented with two right renal masses and several pancreatic cysts at 22Y.

      CaseNotHPOs: HP:0010797; HP:0002666 (Hemangioblastoma, pheochromocytoma)

      CaseNotHPOFreeText: Full VHL phenotyping with brain and spine MRI, abdominal CT, biochemical examination for pheochromocytoma, and ophthalmologic assessments did not reveal any additional VHL manifestations.

      CasePreviousTesting: SDHB, SDHC, SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: (c.-77_-32del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: The mutation was a deletion in the VHL 5’ UTR, including the promoter.

      ClinVarID: 433541, http://www.ncbi.nlm.nih.gov/clinvar/variation/433541

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: 5_prime_UTR_variant

      CivicName: c.-77_-32del

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:renalneoplasm DiseaseEntity:pancreaticcysts AgeOfPresentation:renalneoplasm:22 AgeOfPresentation:pancreaticcysts:22 Mutation:Germline RefSeq:NM_000551.3 cDNAposition:-77_-32 ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:Yes ClinVarID:433541 MutationType:5_prime_UTR_variant CivicName:c.-77_-32del PreviousTesting:SDHB,SDHC,SDHD Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/30006056/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Integrative Genetic Characterization and Phenotype Correlations in Pheochromocytoma and Paraganglioma Tumours
    1
    1. ClingenBaseline 30 Oct 2026
      11PCCM21+VHL40/30Multiple−− VHL 3Germlinec.499C>Tp.Arg167TrpPathogenic

      PatientID: 11

      KindredID: 2

      Case: M, 21Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Patient has 2 siblings (patients 10 and 12) with the same mutation and pheochromocytoma.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: Bilateral pheochromocytoma (40mm and 30mm)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: SDHB (NM_003000.2), SDHC (NM_003001.3), SDHD (NM_003002.2), SDHAF2 (NM_017841.2), RET (exons 10–11 and 13–16, NM_020975.4), TMEM127 (NM_017849.3), MAX (NM_002382.3).

      PreviouslyPublished: N/A

      SupplementalData: Table 2

      Variant: p.R167W (c.499C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2218, https://www.ncbi.nlm.nih.gov/clinvar/variation/2218/

      CAID: N/A

      gnomAD: 0.000007954, https://gnomad.broadinstitute.org/variant/3-10191506-C-T

      VariantEvidence: Loss of heterozygosity could be detected in tumour DNA.

      MutationType: missense_variant;transition

      CivicName: R167W (c.499C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:21 Mutation:Germline RefSeq:NM_000551.3 cDNAposition:499 ProteinPosition:167 AminoAcidChange:ARGtoTRP ClinVarID:2218 ClinVarID:Yes MutationType:missense_variant;transition CivicName:R167W(c.499C>T) PreviousTesting:SDHB/SDHC/SDHD/SDHAF2/RET/TMEM127/MAX Familial SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC3899286/
  4. Oct 2026
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Integrative Genetic Characterization and Phenotype Correlations in Pheochromocytoma and Paraganglioma Tumours
    1
    1. ClingenBaseline 23 Oct 2026
      10PCCF25+VHL60/40Multiple−− VHL 3Germlinec.499C>Tp.Arg167TrpPathogenic

      PatientID: 10

      KindredID: 2

      Case: F, 25Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Patient has 2 siblings (patients 11 and 12) with the same mutation and pheochromocytoma.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: Bilateral pheochromocytomas (60mm and 40mm)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: SDHB (NM_003000.2), SDHC (NM_003001.3), SDHD (NM_003002.2), SDHAF2 (NM_017841.2), RET (exons 10–11 and 13–16, NM_020975.4), TMEM127 (NM_017849.3), MAX (NM_002382.3).

      PreviouslyPublished: N/A

      SupplementalData: Table 2

      Variant: p.R167W (c.499C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2218, https://www.ncbi.nlm.nih.gov/clinvar/variation/2218/

      CAID: N/A

      gnomAD: 0.000007954, https://gnomad.broadinstitute.org/variant/3-10191506-C-T

      VariantEvidence: SNParray analysis of tumour DNA did not show LOH at any locus.

      MutationType: missense_variant;transition

      CivicName: R167W (c.499C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:25 Mutation:Germline RefSeq:NM_000551.3 cDNAposition:499 ProteinPosition:167 AminoAcidChange:ARGtoTRP ClinVarID:2218 ClinVarID:Yes MutationType:missense_variant;transition CivicName:R167W(c.499C>T) PreviousTesting:SDHB/SDHC/SDHD/SDHAF2/RET/TMEM127/MAX Familial SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC3899286/
  6. academic.oup.com academic.oup.com
    Parasympathetic Paragangliomas Are Part of the Von Hippel-Lindau Syndrome
    1
    1. ClingenBaseline 22 Oct 2026
      Case 2 was a 7-yr-old boy, diagnosed with a malignant sympathetic paraganglioma in the retroperitoneum with regional lymph node metastases, who presented with a parasympathetic paraganglioma of the left carotid body 8 yr later. Genetic testing revealed the VHL p.Tyr98His mutation, which has also been described previously (15). In addition hemangioblastomas and pheochromocytomas were found in family members.

      PatientID: 2

      KindredID: 2

      Case: M, 15Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Family history revealed hemangioblastomas and pheochromocytomas.

      CohortInfo: Two patients with parasympathetic paraganglioma, previously published in 19336503 were studied.

      CasePresentingHPOs: HP:0002668 (paraganglioma)

      CaseHPOFreeText: At age 7, the patient had a malignant sympathetic paraganglioma in the retroperitoneum with regional lymph node metastases. Eight years later, the patient presented with a parasympathetic paraganglioma of the left carotid body.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: No other tumours were found.

      CasePreviousTesting: SDHB/SDHC/SDHD

      PreviouslyPublished: 19336503

      SupplementalData: N/A

      Variant: p.Y98H (c.292T>C)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2223 https://www.ncbi.nlm.nih.gov/clinvar/variation/2223/

      CAID: N/A

      gnomAD: 0.00001343 https://gnomad.broadinstitute.org/variant/3-10183823-T-C

      VariantEvidence: Case 2 showed LOH for markers D3S1597 and D3S1263 and was homozygous (not informative) for marker D3S1435.

      MutationType: missense_variant; transition

      CivicName: Y98H (c.292T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:Paraganglioma Mutation:Germline Familial AgeofPresentation:Paraganglioma:7 AgeofPresentation:Paraganglioma:15 PreviousTesting:SDHB/SDHD/SDHC ProteinPosition:98 CivicName:Y98H(c.292T>C) cDNAposition:292 AminoAcidChange:TYRtoHIS ClinVarID:2223 ClinVarID:Yes MutationType:missense_variant;transition RefSeq:NM_000551.2 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    academic.oup.com/jcem/article/94/11/4367/2596649
  7. eje.bioscientifica.com eje.bioscientifica.com
    Should genetic testing be performed in each patient with sporadic pheochromocytoma at presentation?
    1
    1. ClingenBaseline 22 Oct 2026
      1

      PatientID: 1

      KindredID: 1

      Case: M, 13Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: No family history

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: Bilateral Pheochromocytoma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: no other endocrine tumours

      CasePreviousTesting: SDHB, SDHD, SDHC, RET

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y156C (c.467A>G)

      LegacyVariant: N/A

      ClinVar: 43600 https://www.ncbi.nlm.nih.gov/clinvar/variation/43600/

      CAID: CA020394 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA020394

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: Y156C(c.467A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:pheochromocytoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:467 ProteinPosition:156 AminoAcidChange:TYRtoCYS ClinVarID:43600 MutationType:missense_variant;transition CivicName:Y156C(c.467A>G) PreviousTesting:SDHB/SDHD/SDHC/RET AgeOfPresentation:pheochromocytoma:13 ClinVarID:Yes NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    eje.bioscientifica.com/view/journals/eje/160/2/227.xml