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NM_001110792.2(MECP2):c.434G>A (p.Arg145His) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 20, 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:
RCV000133092.5

Allele description

NM_001110792.2(MECP2):c.434G>A (p.Arg145His)

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.434G>A (p.Arg145His)
Other names:
p.R133H:CGC>CAC
HGVS:
  • NC_000023.11:g.154031430C>T
  • NG_007107.2:g.110698G>A
  • NM_001110792.2:c.434G>AMANE SELECT
  • NM_001316337.2:c.119G>A
  • NM_001369391.2:c.119G>A
  • NM_001369392.2:c.119G>A
  • NM_001369393.2:c.119G>A
  • NM_001369394.1:c.119G>A
  • NM_004992.3:c.398G>A
  • NP_001104262.1:p.Arg145His
  • NP_001303266.1:p.Arg40His
  • NP_001356320.1:p.Arg40His
  • NP_001356321.1:p.Arg40His
  • NP_001356322.1:p.Arg40His
  • NP_001356323.1:p.Arg40His
  • NP_004983.1:p.Arg133His
  • LRG_764t1:c.434G>A
  • AJ132917.1:c.398G>A
  • LRG_764p1:p.Arg145His
  • NC_000023.10:g.153296881C>T
  • NM_001110792.1:c.434G>A
  • P51608:p.Arg133His
Protein change:
R133H
Links:
UniProtKB: P51608#VAR_018189; dbSNP: rs61748389
NCBI 1000 Genomes Browser:
rs61748389
Molecular consequence:
  • NM_001110792.2:c.434G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316337.2:c.119G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369391.2:c.119G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369392.2:c.119G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369393.2:c.119G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369394.1:c.119G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.3:c.398G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000191036GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jun 20, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000191036.13

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The R133H pathogenic variant in the MECP2 gene has been reported previously in individuals with classic and atypical Rett syndrome, (Hoffbuhr, et al., 2001; Philippe et al., 2006), including a female with the preserved speech variant of Rett syndrome (Bao et al., 2008) and in a male with Rett syndrome where R133H was observed as a somatic mosaic pathogenic variant (Armstrong et al., 2011). R133H alters a highly conserved residue in the methyl-binding domain (MBD) of the MECP2 protein, where many missense variants at the same codon (R133C, R133G, R133L, R133P) and nearby codons have been reported (RettBASE; Stenson et al, 2014). Therefore, the presence of R133H is consistent with a diagnosis of a MECP2-related disorder

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

Last Updated: Apr 13, 2021