NM_020631.6(PLEKHG5):c.1940T>C (p.Phe647Ser) AND Neuronopathy, distal hereditary motor, autosomal recessive 4

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jul 1, 2007
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000001074.5

Allele description [Variation Report for NM_020631.6(PLEKHG5):c.1940T>C (p.Phe647Ser)]

NM_020631.6(PLEKHG5):c.1940T>C (p.Phe647Ser)

Gene:
PLEKHG5:pleckstrin homology and RhoGEF domain containing G5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.31
Genomic location:
Preferred name:
NM_020631.6(PLEKHG5):c.1940T>C (p.Phe647Ser)
HGVS:
  • NC_000001.11:g.6469444A>G
  • NG_007978.1:g.55566T>C
  • NG_029910.1:g.1752T>C
  • NM_001042663.3:c.2051T>C
  • NM_001042664.2:c.1940T>C
  • NM_001042665.2:c.1940T>C
  • NM_001265592.2:c.2051T>C
  • NM_001265593.2:c.2147T>C
  • NM_001265594.3:c.1940T>C
  • NM_020631.6:c.1940T>CMANE SELECT
  • NM_198681.4:c.1940T>C
  • NP_001036128.2:p.Phe684Ser
  • NP_001036129.1:p.Phe647Ser
  • NP_001036129.1:p.Phe647Ser
  • NP_001036130.1:p.Phe647Ser
  • NP_001036130.1:p.Phe647Ser
  • NP_001252521.2:p.Phe684Ser
  • NP_001252522.1:p.Phe716Ser
  • NP_001252522.1:p.Phe716Ser
  • NP_001252523.1:p.Phe647Ser
  • NP_001252523.1:p.Phe647Ser
  • NP_065682.2:p.Phe647Ser
  • NP_065682.2:p.Phe647Ser
  • NP_941374.3:p.Phe647Ser
  • LRG_262t1:c.1940T>C
  • LRG_262:g.55566T>C
  • LRG_262p1:p.Phe647Ser
  • NC_000001.10:g.6529504A>G
  • NM_001042664.1:c.1940T>C
  • NM_001042665.1:c.1940T>C
  • NM_001265593.1:c.2147T>C
  • NM_001265594.2:c.1940T>C
  • NM_020631.2:c.1940T>C
  • NM_020631.3:c.1940T>C
  • NM_020631.4:c.1940T>C
Protein change:
F647S; PHE647SER
Links:
OMIM: 611101.0001; dbSNP: rs63750315
NCBI 1000 Genomes Browser:
rs63750315
Molecular consequence:
  • NM_001042663.3:c.2051T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042664.2:c.1940T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042665.2:c.1940T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265592.2:c.2051T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265593.2:c.2147T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265594.3:c.1940T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020631.6:c.1940T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198681.4:c.1940T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neuronopathy, distal hereditary motor, autosomal recessive 4
Synonyms:
Distal spinal muscular atrophy, autosomal recessive 4; 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000021224OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 2007) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

SCV000090405SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation
no classification provided
not providedunknownnot provided

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36.

Maystadt I, Zarhrate M, Leclair-Richard D, Estournet B, Barois A, Renault F, Routon MC, Durand MC, Lefebvre S, Munnich A, Verellen-Dumoulin C, Viollet L.

Neurology. 2006 Jul 11;67(1):120-4. Epub 2006 May 25.

PubMed [citation]
PMID:
16728649

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

Details of each submission

From OMIM, SCV000021224.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a large African family originating from Mali with autosomal recessive distal hereditary motor neuronopathy-4 (HMNR4; 611067) reported by Maystadt et al. (2006), Maystadt et al. (2007) identified a homozygous T-to-C transition at nucleotide 1940 (c.1940T-C) in the PLEKHG5 gene, resulting in substitution of serine for phenylalanine-647 (F647S) in the pleckstrin homology domain of the protein. Affected individuals presented with generalized muscle weakness and atrophy with denervation and normal sensation. Bulbar symptoms and pyramidal signs were absent. In 4 of the 5 affected children, the outcome was severe, with loss of walking and the need for permanent respiratory assistance before adulthood.

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

From SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation, SCV000090405.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot provided1not providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024