Seven VHL mutations were identified in 10 unrelated, Swedish families. Direct genome sequencing through Southern blot identified this missense mutation (c.112T>C) in family #1 with 1 affected member. They were found with renal cell carcinoma and pheochromocytoma. Other information on the affected member and relatives was not available. This mutation was not present in the other probands or 19 reference members.
2 Matching Annotations
- Oct 2026
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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GroupID/ KindredID: 1
Case: Age, Sex, Swedish
DiseaseAssertion: VHL
FamilyInfo: N/A
CasePresentingHPOs: HP:0005584; HP:0002666 (renal cell carcinoma; pheochromocytoma)
CaseHPOFreeText: N/A
CaseNotHPOs: HP:0009711; HP:0010797 (retinal capillary hemangioma; hemangioblastoma)
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.S38P (c.112T>C)
CaseProblemVariantFreeText: N/A
LegacyVariant: N/A
ClinVarID: N/A
CAID: CA351747824 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.112T%3EC
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant; transition
CivicName: S38P (c.112T>C)
MultipleGeneVariants: N/A
Tags
- CivicName:S38P(c.112T>C)
- InheritancePattern:AutosomalDominant
- DiseaseEntity:VHL
- Mutation:Germline
- inferred_gene_source:CAID
- cDNAposition:112
- Ethnicity:Swedish
- EvidenceStatement
- ClinVarID:N/A
- DiseaseEntity:pheochromocytoma
- VHL Hypothesis Annotation
- inferred_gene_hgnc:12687
- NoFamilyInfo
- RefSeq:AF010238.1
- ProteinPosition:38
- AminoAcidChange:SERtoPRO
- CAID:CA351747824
- MutationType:missense_variant;transition
- DiseaseEntity:renalcellcarcinoma
Annotators
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