This study reports 1,548 germline and somatic mutations from 945 VHL families, including 30 previously unpublished kindreds from The Netherlands (six novel mutations). This mutation was detected by direct sequencing and MLPA. This frameshift mutation (c.351del) was detected as sporadic germline in case no. 198 with hemangioblastoma of the central nervous system. The case phenotypes are highly specific for a disease with a single genetic etiology (ACMG code: PP4).
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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PatientID: N/A
KindredID: 198
Case: Age unknown, Sex unknown, Ethnicity unknown
DiseaseAssertion: assumed VHL
FamilyInfo: Paper states: Germline, de novo
CasePresentingHPOs: HP:0010797 (hemangioblastoma)
CaseHPOFreeText: N/A
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: Yes (Specifically Supp. Table S2)
Variant: p.W117Cfs*42 (c.351del)
LegacyVariant: N/A
CaseProblemVariantFreeText: paper states c.350delG which automaps to NM_000551.3:c.351delG
ClinVarID: 223197 https://www.ncbi.nlm.nih.gov/clinvar/variation/223197/
CAID: N/A
gnomAD: N/A
VariantEvidence: N/A
MutationType: minus_1_frameshift_variant
CivicName: W117fs (c.351del)
MultipleGeneVariants: N/A
Tags
- RefSeq:NM_000551.2
- MutationType:minus_1_frameshift_variant
- DiseaseEntity:VHL
- ClinVarID:Yes
- EvidenceStatement
- DiseaseEntity:hemangioblastoma
- inferred_gene_source:RefSeq
- cDNAposition:351
- inferred_gene_source:ClinVar
- VHL Hypothesis Annotation
- Mutation:Germline
- InheritancePattern:DeNovoAssertion
- ClinVarID:223197
- AminoAcidChange:TRPtoCYS
- SupplementalData
- CivicName:W117fs(c.351del)
- ProteinPosition:117
- ExperimentalAssay
- inferred_gene_hgnc:12687
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