NM_020631.6(PLEKHG5):c.1322AGG[2] (p.Glu443del) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 31, 2024
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV003035027.3

Allele description [Variation Report for NM_020631.6(PLEKHG5):c.1322AGG[2] (p.Glu443del)]

NM_020631.6(PLEKHG5):c.1322AGG[2] (p.Glu443del)

Gene:

PLEKHG5:pleckstrin homology and RhoGEF domain containing G5 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

1p36.31

Genomic location:

Preferred name:

NM_020631.6(PLEKHG5):c.1322AGG[2] (p.Glu443del)

HGVS:

NC_000001.11:g.6471054TCC[2]
NG_007978.1:g.53950AGG[2]
NG_029910.1:g.136AGG[2]
NM_001042663.3:c.1433AGG[2]
NM_001042664.2:c.1320_1322GGA[2]
NM_001042665.2:c.1320_1322GGA[2]
NM_001265592.2:c.1433AGG[2]
NM_001265593.2:c.1527_1529GGA[2]
NM_001265594.3:c.1320_1322GGA[2]
NM_020631.6:c.1322AGG[2]MANE SELECT
NM_198681.4:c.1322AGG[2]
NP_001036128.2:p.Glu480del
NP_001036129.1:p.Glu443del
NP_001036129.1:p.Glu443del
NP_001036130.1:p.Glu443del
NP_001036130.1:p.Glu443del
NP_001252521.2:p.Glu480del
NP_001252522.1:p.Glu512del
NP_001252522.1:p.Glu512del
NP_001252523.1:p.Glu443del
NP_001252523.1:p.Glu443del
NP_065682.2:p.Glu443del
NP_065682.2:p.Glu443del
NP_941374.3:p.Glu443del
LRG_262t1:c.1320_1322GGA[2]
LRG_262:g.53950AGG[2]
LRG_262p1:p.Glu443del
NC_000001.10:g.6531112_6531114del
NC_000001.10:g.6531114TCC[2]
NM_001042664.1:c.1322AGG[2]
NM_001042665.1:c.1322AGG[2]
NM_001265593.1:c.1529AGG[2]
NM_001265594.2:c.1322AGG[2]
NM_020631.3:c.1320_1322GGA[2]

Protein change:

E443del

Links:

dbSNP: rs2148583756

NCBI 1000 Genomes Browser:

rs2148583756

Molecular consequence:

NM_001042663.3:c.1433AGG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001265592.2:c.1433AGG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_020631.6:c.1322AGG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_198681.4:c.1322AGG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001042664.2:c.1320_1322GGA[2] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001042665.2:c.1320_1322GGA[2] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001265593.2:c.1527_1529GGA[2] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001265594.3:c.1320_1322GGA[2] - inframe_indel - [Sequence Ontology: SO:0001820]

Condition(s)

Name:: Neuronopathy, distal hereditary motor, autosomal recessive 4
Synonyms:: Autosomal recessive lower motor neuron disease with childhood onset; NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 4
Identifiers:: MONDO: MONDO:0012608; MedGen: C1970211; Orphanet: 206580; OMIM: 611067

Name:: Charcot-Marie-Tooth disease recessive intermediate C
Synonyms:: CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE C
Identifiers:: MONDO: MONDO:0014154; MedGen: C3809309; Orphanet: 369867; OMIM: 615376

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003336499	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jan 31, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003336499

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jan 31, 2024)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9..

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003336499.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant, c.1328_1330del, results in the deletion of 1 amino acid(s) of the PLEKHG5 protein (p.Glu443del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PLEKHG5-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 16, 2025

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