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NM_000551.4(VHL):c.341-25_370dup

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Feb 6, 2020)
Last evaluated:
Nov 18, 2019
Accession:
VCV000411994.3
Variation ID:
411994
Description:
55bp duplication
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NM_000551.4(VHL):c.341-25_370dup

Allele ID
393212
Variant type
Duplication
Variant length
55 bp
Cytogenetic location
3p25.3
Genomic location
3: 10146488-10146489 (GRCh38) GRCh38 UCSC
3: 10188172-10188173 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_322:g.9855_9909dup
LRG_322t1:c.341-25_370dup
NC_000003.11:g.10188173_10188227dup
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA040509
dbSNP: rs1553619923
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 Nov 18, 2019 RCV000465422.2
Likely pathogenic 1 criteria provided, single submitter Aug 1, 2018 RCV000767258.1
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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
550 1356
LOC107303340 - - - GRCh38 - 775

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Aug 01, 2018)
criteria provided, single submitter
Method: clinical testing
von Hippel-Lindau syndrome
Allele origin: germline
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia
Accession: SCV000897807.1
Submitted: (Jan 10, 2019)
Evidence details
Uncertain significance
(Nov 18, 2019)
criteria provided, single submitter
Method: clinical testing
Von Hippel-Lindau syndrome
Erythrocytosis, familial, 2
Allele origin: germline
Invitae
Accession: SCV000553424.3
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change is a 55bp tandem duplication which includes portions of intron 1 and exon 2 and spans the splice site. The frequency data … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1553619923...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021