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NM_020631.5(PLEKHG5):c.2377dup (p.Ala793fs)

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 12, 2020
Accession:
VCV000284266.3
Variation ID:
284266
Description:
1bp duplication
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NM_020631.5(PLEKHG5):c.2377dup (p.Ala793fs)

Allele ID
268503
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
1p36.31
Genomic location
1: 6468458-6468459 (GRCh38) GRCh38 UCSC
1: 6528518-6528519 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.6528519dup
NC_000001.11:g.6468459dup
NM_001042663.2:c.2545dup NP_001036128.1:p.Ala849fs frameshift
... more HGVS
Protein change
A862fs, A849fs, A872fs, A793fs, A870fs
Other names
-
Canonical SPDI
NC_000001.11:6468458:C:CC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA561171
dbSNP: rs753593088
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 24, 2015 RCV000281055.1
Pathogenic 1 criteria provided, single submitter Jun 12, 2020 RCV001380030.1
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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
(Nov 24, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000336827.3
Submitted: (Nov 03, 2016)
Evidence details
Other databases
http://geneticslab.emory.edu/emv…
Pathogenic
(Jun 12, 2020)
criteria provided, single submitter
Method: clinical testing
Distal spinal muscular atrophy, autosomal recessive 4
Charcot-Marie-Tooth disease, recessive intermediate c
Allele origin: germline
Invitae
Accession: SCV001577957.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change creates a premature translational stop signal (p.Ala793Glyfs*9) in the PLEKHG5 gene. It is expected to result in an absent or disrupted protein … (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
The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. Maystadt I American journal of human genetics 2007 PMID: 17564964
http://geneticslab.emory.edu/emvclass/emvclass.php?approved_symbol=PLEKHG5 - - - -

Text-mined citations for rs753593088...

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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 Jun 14, 2021