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NM_020631.5(PLEKHG5):c.1469A>G (p.Lys490Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2019)
Last evaluated:
Feb 10, 2017
Accession:
VCV000423300.2
Variation ID:
423300
Description:
single nucleotide variant
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NM_020631.5(PLEKHG5):c.1469A>G (p.Lys490Arg)

Allele ID
405226
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.31
Genomic location
1: 6470808 (GRCh38) GRCh38 UCSC
1: 6530868 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.6530868T>C
NC_000001.11:g.6470808T>C
NM_001042663.2:c.1637A>G NP_001036128.1:p.Lys546Arg missense
... more HGVS
Protein change
K490R, K567R, K559R, K546R, K569R
Other names
-
Canonical SPDI
NC_000001.11:6470807:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (C)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00004
1000 Genomes Project 0.00020
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Links
ClinGen: CA16617179
dbSNP: rs534760199
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 Feb 10, 2017 RCV000481782.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PLEKHG5 - - GRCh38
GRCh37
669 733

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 10, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000572979.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.1469 A>G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The … (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 rs534760199...

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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