NM_020631.6(PLEKHG5):c.2458G>C (p.Gly820Arg) AND Charcot-Marie-Tooth disease, recessive intermediate c

Clinical significance:Pathogenic (Last evaluated: Jul 12, 2013)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000054546.6

Allele description [Variation Report for NM_020631.6(PLEKHG5):c.2458G>C (p.Gly820Arg)]

NM_020631.6(PLEKHG5):c.2458G>C (p.Gly820Arg)

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.2458G>C (p.Gly820Arg)
HGVS:
  • NC_000001.11:g.6468378C>G
  • NG_007978.1:g.56632G>C
  • NG_029910.1:g.2818G>C
  • NM_001042663.3:c.2569G>C
  • NM_001042664.1:c.2458G>C
  • NM_001042665.1:c.2458G>C
  • NM_001265592.2:c.2569G>C
  • NM_001265593.1:c.2665G>C
  • NM_001265594.2:c.2458G>C
  • NM_020631.6:c.2458G>CMANE SELECT
  • NM_198681.4:c.2458G>C
  • NP_001036128.2:p.Gly857Arg
  • NP_001036129.1:p.Gly820Arg
  • NP_001036130.1:p.Gly820Arg
  • NP_001252521.2:p.Gly857Arg
  • NP_001252522.1:p.Gly889Arg
  • NP_001252523.1:p.Gly820Arg
  • NP_065682.2:p.Gly820Arg
  • NP_941374.3:p.Gly820Arg
  • LRG_262:g.56632G>C
  • NC_000001.10:g.6528438C>G
  • NM_001265594.1:c.2458G>C
Protein change:
G820R; GLY820ARG
Links:
OMIM: 611101.0005; dbSNP: rs202191898
NCBI 1000 Genomes Browser:
rs202191898
Molecular consequence:
  • NM_001042663.3:c.2569G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042664.1:c.2458G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042665.1:c.2458G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265592.2:c.2569G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265593.1:c.2665G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265594.2:c.2458G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020631.6:c.2458G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198681.4:c.2458G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease, recessive intermediate c (CMTRIC)
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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000083024OMIMno assertion criteria providedPathogenic
(Jul 12, 2013)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.

Kim HJ, Hong YB, Park JM, Choi YR, Kim YJ, Yoon BR, Koo H, Yoo JH, Kim SB, Park M, Chung KW, Choi BO.

Orphanet J Rare Dis. 2013 Jul 12;8:104. doi: 10.1186/1750-1172-8-104. Erratum in: Orphanet J Rare Dis. 2013;8:165.

PubMed [citation]
PMID:
23844677
PMCID:
PMC3728151

Details of each submission

From OMIM, SCV000083024.4

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

Description

For discussion of the gly820-to-arg (G820R) mutation in the PLEKHG5 gene that was found in compound heterozygous state in a patient with an intermediate form of autosomal recessive Charcot-Marie-Tooth disease (CMTRIC; 615376) by Kim et al. (2013), see 611101.0004.

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

Last Updated: Oct 25, 2021

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