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NM_000551.3(VHL):c.356_357insGG (p.Phe119fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2019)
Last evaluated:
May 15, 2017
Accession:
VCV000429679.2
Variation ID:
429679
Description:
2bp insertion
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NM_000551.3(VHL):c.356_357insGG (p.Phe119fs)

Allele ID
421409
Variant type
Insertion
Variant length
2 bp
Cytogenetic location
3p25.3
Genomic location
3: 10146529-10146530 (GRCh38) GRCh38 UCSC
3: 10188213-10188214 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.10188213_10188214insGG
NC_000003.12:g.10146529_10146530insGG
NM_000551.3:c.356_357insGG NP_000542.1:p.Phe119fs frameshift
... more HGVS
Protein change
F119fs
Other names
-
Canonical SPDI
NC_000003.12:10146529::GG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA645369328
dbSNP: rs1131691526
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter May 15, 2017 RCV000494175.1
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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
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
Likely pathogenic
(May 15, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000582304.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.356_357insGG variant in the VHL gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to … (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 rs1131691526...

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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 Feb 27, 2021