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NM_020631.6(PLEKHG5):c.1788del (p.Lys597fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 3, 2019
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:
RCV001065654.7

Allele description [Variation Report for NM_020631.6(PLEKHG5):c.1788del (p.Lys597fs)]

NM_020631.6(PLEKHG5):c.1788del (p.Lys597fs)

Gene:
PLEKHG5:pleckstrin homology and RhoGEF domain containing G5 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p36.31
Genomic location:
Preferred name:
NM_020631.6(PLEKHG5):c.1788del (p.Lys597fs)
HGVS:
  • NC_000001.11:g.6470251del
  • NG_007978.1:g.54762del
  • NG_029910.1:g.948del
  • NM_001042663.3:c.1899del
  • NM_001042664.2:c.1785delG
  • NM_001042665.2:c.1785delG
  • NM_001265592.2:c.1899del
  • NM_001265593.2:c.1992delG
  • NM_001265594.3:c.1785delG
  • NM_020631.6:c.1788delMANE SELECT
  • NM_198681.4:c.1788del
  • NP_001036128.2:p.Lys634fs
  • NP_001036129.1:p.Lys597Argfs
  • NP_001036129.1:p.Lys597fs
  • NP_001036130.1:p.Lys597Argfs
  • NP_001036130.1:p.Lys597fs
  • NP_001252521.2:p.Lys634fs
  • NP_001252522.1:p.Lys666Argfs
  • NP_001252522.1:p.Lys666fs
  • NP_001252523.1:p.Lys597Argfs
  • NP_001252523.1:p.Lys597fs
  • NP_065682.2:p.Lys597Argfs
  • NP_065682.2:p.Lys597fs
  • NP_941374.3:p.Lys597fs
  • LRG_262t1:c.1785del
  • LRG_262:g.54762del
  • LRG_262p1:p.Lys597Argfs
  • NC_000001.10:g.6530308del
  • NC_000001.10:g.6530311del
  • NM_001042664.1:c.1788del
  • NM_001042665.1:c.1788del
  • NM_001265593.1:c.1995del
  • NM_001265594.2:c.1788del
  • NM_020631.3:c.1785delG
  • NM_020631.4:c.1788del
Protein change:
K597fs
Links:
dbSNP: rs1644525008
Molecular consequence:
  • NM_001042663.3:c.1899del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001042664.2:c.1785delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001042665.2:c.1785delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001265592.2:c.1899del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001265593.2:c.1992delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001265594.3:c.1785delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_020631.6:c.1788del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_198681.4:c.1788del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001230624Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 3, 2019) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.

Maystadt I, Rezsöhazy R, Barkats M, Duque S, Vannuffel P, Remacle S, Lambert B, Najimi M, Sokal E, Munnich A, Viollet L, Verellen-Dumoulin C.

Am J Hum Genet. 2007 Jul;81(1):67-76. Epub 2007 May 16.

PubMed [citation]
PMID:
17564964
PMCID:
PMC1950913

PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.

Azzedine H, Zavadakova P, Planté-Bordeneuve V, Vaz Pato M, Pinto N, Bartesaghi L, Zenker J, Poirot O, Bernard-Marissal N, Arnaud Gouttenoire E, Cartoni R, Title A, Venturini G, Médard JJ, Makowski E, Schöls L, Claeys KG, Stendel C, Roos A, Weis J, Dubourg O, Leal Loureiro J, et al.

Hum Mol Genet. 2013 Oct 15;22(20):4224-32. doi: 10.1093/hmg/ddt274. Epub 2013 Jun 17.

PubMed [citation]
PMID:
23777631
PMCID:
PMC3983407
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001230624.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PLEKHG5-related conditions. Loss-of-function variants in PLEKHG5 are known to be pathogenic (PMID: 17564964, 23777631). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Lys597Argfs*18) in the PLEKHG5 gene. It is expected to result in an absent or disrupted protein product.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 23, 2026

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