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NM_000551.4(VHL):c.340+728dup

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 6, 2020
Accession:
VCV000841029.2
Variation ID:
841029
Description:
1bp duplication
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NM_000551.4(VHL):c.340+728dup

Allele ID
850995
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
3p25.3
Genomic location
3: 10142913-10142914 (GRCh38) GRCh38 UCSC
3: 10184597-10184598 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.10184599dup
NC_000003.12:g.10142915dup
NM_000551.4:c.340+728dup MANE Select
... more HGVS
Protein change
Y165fs
Other names
-
Canonical SPDI
NC_000003.12:10142913:TT:TTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 6, 2020 RCV001043168.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
VHL Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
551 1350
LOC107303340 - - - GRCh38 - 774

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 06, 2020)
criteria provided, single submitter
Method: clinical testing
Von Hippel-Lindau syndrome
Erythrocytosis, familial, 2
Allele origin: germline
Invitae
Accession: SCV001206887.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change falls in intron 1 of the VHL gene. It is not expected to change the encoded amino acid sequence of the VHL … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Identification of a new <i>VHL</i> exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease. Lenglet M Blood 2018 PMID: 29891534

Record last updated May 10, 2021