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NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys) AND History of neurodevelopmental disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 3, 2016
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:
RCV000715718.3

Allele description [Variation Report for NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys)]

NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys)

Gene:
MECP2:methyl-CpG binding protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys)
Other names:
p.R115C:CGC>TGC; NM_001110792.2(MECP2):c.379C>T; p.Arg127Cys
HGVS:
  • NC_000023.11:g.154032241G>A
  • NG_007107.3:g.109863C>T
  • NM_001110792.2:c.379C>TMANE SELECT
  • NM_001316337.2:c.64C>T
  • NM_001369391.2:c.64C>T
  • NM_001369392.2:c.64C>T
  • NM_001369393.2:c.64C>T
  • NM_001369394.2:c.64C>T
  • NM_001386137.1:c.-218C>T
  • NM_001386138.1:c.-218C>T
  • NM_001386139.1:c.-218C>T
  • NM_004992.4:c.343C>T
  • NP_001104262.1:p.Arg127Cys
  • NP_001303266.1:p.Arg22Cys
  • NP_001356320.1:p.Arg22Cys
  • NP_001356321.1:p.Arg22Cys
  • NP_001356322.1:p.Arg22Cys
  • NP_001356323.1:p.Arg22Cys
  • NP_004983.1:p.Arg115Cys
  • NP_004983.1:p.Arg115Cys
  • LRG_764t1:c.379C>T
  • LRG_764t2:c.343C>T
  • AJ132917.1:c.343C>T
  • LRG_764:g.109863C>T
  • LRG_764p1:p.Arg127Cys
  • LRG_764p2:p.Arg115Cys
  • NC_000023.10:g.153297692G>A
  • NC_000023.10:g.153297692G>A
  • NG_007107.2:g.109887C>T
  • NM_004992.3:c.343C>T
Protein change:
R115C
Links:
dbSNP: rs267608388
NCBI 1000 Genomes Browser:
rs267608388
Molecular consequence:
  • NM_001386137.1:c.-218C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386138.1:c.-218C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386139.1:c.-218C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001110792.2:c.379C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316337.2:c.64C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369391.2:c.64C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369392.2:c.64C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369393.2:c.64C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369394.2:c.64C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.4:c.343C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
History of neurodevelopmental disorder
Identifiers:
MedGen: C2711754

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000846549Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Uncertain significance
(May 3, 2016) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Multiple de novo mutations in the MECP2 gene.

Bunyan DJ, Robinson DO.

Genet Test. 2008 Sep;12(3):373-5. doi: 10.1089/gte.2008.0012.

PubMed [citation]
PMID:
18652533

Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation.

Fendri-Kriaa N, Mkaouar-Rebai E, Moalla D, Belguith N, Louhichi N, Zemni R, Slama F, Triki C, Fakhfakh F; Tunisian Network on Mental Retardation..

J Child Neurol. 2010 Aug;25(8):1042-6. doi: 10.1177/0883073809356353.

PubMed [citation]
PMID:
20631224

Details of each submission

From Ambry Genetics, SCV000846549.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

The p.R115C variant (also known as c.343C>T), located in coding exon 2 of the MECP2 gene, results from a C to T substitution at nucleotide position 343. The arginine at codon 115 is replaced by cysteine, an amino acid with highly dissimilar properties. This variant was identified asde novo in a female individual with classic Rettsyndrome who also carrieda de novoframeshiftmutation in MECP2. The phase of the two alterations was not confirmed and there was no evidence of skewed x-inactivation (Bunyan DJ, Genet. Test. 2008 Sep; 12(3):373-5).This variant was previously reported in the SNPDatabase as rs267608388, but was absent from population-based cohorts in the NHLBI Exome Sequencing Project (ESP) and 1000 Genomes Project databases.This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis.Based on the majority of available evidence to date,theclinical significance of this variantremains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024