4 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    VHL gene mutation analysis of a Chinese family with non- syndromic pheochromocytomas and patients with apparently sporadic pheochromocytoma
    1
    1. ClingenBaseline 05 Nov 2026

      PatientID: Proband 8

      KindredID: 4

      Case: M, 29Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002666; HP:0005562 (Pheochromocytoma, Multiple renal cysts)

      CaseHPOFreeText: Unilateral PCC diagnosed at 29Y and bilateral renal cysts. Stated as having VHL type IIB.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P138Afs*6 (c.410dup)

      LegacyVariant: 623insTTTGTtG

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA432421860, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.410dup

      gnomAD: N/A

      VariantEvidence: The VHL NM_000551.3 reference sequence surrounding nucleotide 410 is a TTTGTG sequence, where the 4th T is at position 410, which converts to nucleotide 623 in the legacy reference sequence (AF010238.1). Therefore it is assumed that the authors reported their insertion variant in the legacy nomenclature and this was mapped to p.Pro138Alafs*6 (c.410dup) in NM_000551.3.

      MutationType: insertion; plus_1_frameshift_variant

      CivicName: P138fs (c.410dup)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:multiplerenalcysts AgeOfPresentation:pheochromocytoma:29 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:410 ProteinPosition:138 AminoAcidChange:PROtoALA ClinVarID:N/A CAID:CA432421860 MutationType:plus_1_frameshift_variant MutationType:insertion CivicName:P138fs(c.410dup) Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/25773797/
  3. Oct 2026
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    VHL gene mutation analysis of a Chinese family with non- syndromic pheochromocytomas and patients with apparently sporadic pheochromocytoma
    3
    1. ClingenBaseline 28 Oct 2026

      PatientID: Carrier 13 (mother to proband 7)

      KindredID: 3

      Case: F, 50Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: Father, mother and sister (all relative to proband 7) had this variant. Both father and sister were asymptomatic. Proband and mother presented with unilateral PCC.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: Unilateral PCC diagnosed at 22Y and did not have any other clinical presentations. Stated as having VHL type IIC.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P138Afs*6 (c.410dup)

      LegacyVariant: 623insTTTGTtG

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA432421860, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.410dup

      gnomAD: N/A

      VariantEvidence: The VHL NM_000551.3 reference sequence surrounding nucleotide 410 is a TTTGTG sequence, where the 4th T is at position 410, which converts to nucleotide 623 in the legacy reference sequence (AF010238.1). Therefore it is assumed that the authors reported their insertion variant in the legacy nomenclature and this was mapped to p.Pro138Alafs*6 (c.410dup) in NM_000551.3.

      MutationType: insertion; plus_1_frameshift_variant

      CivicName: P138fs (c.410dup)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:50 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:410 ProteinPosition:138 AminoAcidChange:PROtoALA ClinVarID:N/A CAID:CA432421860 MutationType:plus_1_frameshift_variant MutationType:insertion CivicName:P138fs(c.410dup) Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 26 Oct 2026

      PatientID: Carrier 12 (sister to proband 7)

      KindredID: 3

      Case: M, Age Unknown, Chinese

      DiseaseAssertion: Asymptomatic

      FamilyInfo: Father, mother and sister (all relative to proband 7) had this variant. Both father and sister were asymptomatic. Proband and mother presented with unilateral PCC.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P138Afs*6 (c.410dup)

      LegacyVariant: 623insTTTGTtG

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA432421860, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.410dup

      gnomAD: N/A

      VariantEvidence: The VHL NM_000551.3 reference sequence surrounding nucleotide 410 is a TTTGTG sequence, where the 4th T is at position 410, which converts to nucleotide 623 in the legacy reference sequence (AF010238.1). Therefore it is assumed that the authors reported their insertion variant in the legacy nomenclature and this was mapped to p.Pro138Alafs*6 (c.410dup) in NM_000551.3.

      MutationType: insertion; plus_1_frameshift_variant

      CivicName: P138fs (c.410dup)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:Asymptomatic Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:410 ProteinPosition:138 AminoAcidChange:PROtoALA ClinVarID:N/A CAID:CA432421860 MutationType:plus_1_frameshift_variant MutationType:insertion CivicName:P138fs(c.410dup) Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    3. ClingenBaseline 22 Oct 2026

      PatientID: Carrier 11 (father to proband 7)

      KindredID: 3

      Case: M, Age Unknown, Chinese

      DiseaseAssertion: Asymptomatic

      FamilyInfo: Father, mother and sister (all relative to proband 7) had this variant. Both father and sister were asymptomatic. Proband and mother presented with unilateral PCC.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P138Afs*6 (c.410dup)

      LegacyVariant: 623insTTTGTtG

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA432421860, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.410dup

      gnomAD: N/A

      VariantEvidence: The VHL NM_000551.3 reference sequence surrounding nucleotide 410 is a TTTGTG sequence, where the 4th T is at position 410, which converts to nucleotide 623 in the legacy reference sequence (AF010238.1). Therefore it is assumed that the authors reported their insertion variant in the legacy nomenclature and this was mapped to p.Pro138Alafs*6 (c.410dup) in NM_000551.3.

      MutationType: insertion; plus_1_frameshift_variant

      CivicName: P138fs (c.410dup)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:Asymptomatic Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:410 ProteinPosition:138 AminoAcidChange:PROtoALA ClinVarID:N/A CAID:CA432421860 MutationType:plus_1_frameshift_variant MutationType:insertion CivicName:P138fs(c.410dup) Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/25773797/