A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot analysis of peripheral blood samples. The E173Rfs*29 (c.516del) germline mutation was found in a VHL type 1 patient presenting with CNS hemangioblastoma, pancreatic cyst or tumor (unspecified) and renal cell carcinoma (family ID 105).
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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PatientID: None
KindredID: 105
Case: Sex Unknown, Age Unknown, Japanese
DiseaseAssertion: VHL
FamilyInfo: N/A
CasePresentingHPOs: HP:0010797; HP:0005584; HP:0001732 (Hemangioblastoma, Renal cell carcinoma, Abnormality of the pancreas)
CaseHPOFreeText: CNS hemangioblastoma, pancreatic cyst or tumor (unspecified) and renal cell carcinoma.
CaseNotHPOs: HP:0009711 (Retinal capillary hemangioma)
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.E173Rfs*29 (c.516del)
LegacyVariant: c.729del
CaseProblemVariantFreeText: N/A
ClinVarID: N/A
CAID: CA645525089, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.516del
gnomAD: N/A
VariantEvidence: N/A
MutationType: deletion; minus_1_frameshift_variant
CivicName: E173Rfs*29 (c.516del)
MultipleGeneVariants: N/A
Tags
- CivicName:E173Rfs*29(c.516del)
- InheritancePattern:AutosomalDominant
- cDNAposition:516
- DiseaseEntity:VHL
- Mutation:Germline
- inferred_gene_source:CAID
- AminoAcidChange:GLUtoARG
- EvidenceStatement
- MutationType:deletion
- ClinVarID:N/A
- Ethnicity:Japanese
- DiseaseEntity:hemangioblastoma
- ProteinPosition:173
- MutationType:minus_1_frameshift_variant
- VHL Hypothesis Annotation
- inferred_gene_hgnc:12687
- NoFamilyInfo
- RefSeq:AF010238.1
- CAID:CA645525089
- DiseaseEntity:abnormalityofthepancreas
- DiseaseEntity:renalcellcarcinoma
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