U.S. flag

An official website of the United States government

NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 24, 2017
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:
RCV000624100.7

Allele description [Variation Report for NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)]

NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)

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.844C>T (p.Arg282Ter)
Other names:
NP_004983.1:p.Arg270*; p.R270*:CGA>TGA; NM_001110792.2(MECP2):c.844C>T; p.Arg282Ter
HGVS:
  • NC_000023.11:g.154031020G>A
  • NG_007107.3:g.111084C>T
  • NM_001110792.2:c.844C>TMANE SELECT
  • NM_001316337.2:c.529C>T
  • NM_001369391.2:c.529C>T
  • NM_001369392.2:c.529C>T
  • NM_001369393.2:c.529C>T
  • NM_001369394.2:c.529C>T
  • NM_001386137.1:c.139C>T
  • NM_001386138.1:c.139C>T
  • NM_001386139.1:c.139C>T
  • NM_004992.4:c.808C>T
  • NP_001104262.1:p.Arg282Ter
  • NP_001303266.1:p.Arg177Ter
  • NP_001356320.1:p.Arg177Ter
  • NP_001356321.1:p.Arg177Ter
  • NP_001356322.1:p.Arg177Ter
  • NP_001356323.1:p.Arg177Ter
  • NP_001373066.1:p.Arg47Ter
  • NP_001373067.1:p.Arg47Ter
  • NP_001373068.1:p.Arg47Ter
  • NP_004983.1:p.Arg270Ter
  • NP_004983.1:p.Arg270Ter
  • LRG_764t1:c.844C>T
  • LRG_764t2:c.808C>T
  • AJ132917.1:c.808C>T
  • LRG_764:g.111084C>T
  • LRG_764p1:p.Arg282Ter
  • LRG_764p2:p.Arg270Ter
  • NC_000023.10:g.153296471G>A
  • NG_007107.2:g.111108C>T
  • NM_001110792.1:c.844C>T
  • NM_001110792.2:c.844C>T
  • NM_001316337.2:c.529C>T
  • NM_004992.3:c.808C>T
  • p.(Arg270*)
  • p.Arg270X
Protein change:
R177*; ARG270TER
Links:
OMIM: 300005.0005; dbSNP: rs61750240
NCBI 1000 Genomes Browser:
rs61750240
Molecular consequence:
  • NM_001110792.2:c.844C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001316337.2:c.529C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369391.2:c.529C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369392.2:c.529C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369393.2:c.529C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369394.2:c.529C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001386137.1:c.139C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001386138.1:c.139C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001386139.1:c.139C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004992.4:c.808C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000741795Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Mar 24, 2017) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

Cheadle JP, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, Krawczak M, Cooper DN, Lynch S, Thomas N, Hughes H, Hulten M, Ravine D, Sampson JR, Clarke A.

Hum Mol Genet. 2000 Apr 12;9(7):1119-29. Erratum in: Hum Mol Genet 2000 Jul 1;9(11):1717.

PubMed [citation]
PMID:
10767337

Preserved speech variant is allelic of classic Rett syndrome.

De Bona C, Zappella M, Hayek G, Meloni I, Vitelli F, Bruttini M, Cusano R, Loffredo P, Longo I, Renieri A.

Eur J Hum Genet. 2000 May;8(5):325-30.

PubMed [citation]
PMID:
10854091
See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV000741795.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

The p.R270* pathogenic mutation (also known as c.808C>T), located in coding exon 3 of the MECP2 gene, results from a C to T substitution at nucleotide position 808. This changes the amino acid from an arginine to a stop codon within coding exon 3. This common recurrent MECP2 mutation is located in the TRD-NLS (transcription repression domain-nuclear localization signal) region and has been shown to cause a more severe phenotype compared to other MECP2 mutations (Cardoza B et al. Seizure, 2011 Oct;20:646-9; Kifayathullah LA et al. Cytogenet Genome Res. 2010;129(4):290-297). In addition, this mutation has been reported in both males (several with XXY karyotypes) and females with classic Rett syndrome (Reichow B et al. J Autism Dev Disord, 2015 Oct;45:3377-83; De Bona Cet al. Eur J Hum Genet. 2000;8(5):325-330; Cheadle JP et al. Hum Mol Genet. 2000;9(7):1119-1129). Another study found that this mutation is unable to repress transcription, a major function of MeCP2 protein (Yusufzai TM et al. Nucleic Acids Res. 2000;28(21):4172-4179). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Nov 10, 2024