U.S. flag

An official website of the United States government

NM_001110792.2(MECP2):c.690_693del (p.Lys231fs) AND Rett syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Mar 26, 2024
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:
RCV000133189.3

Allele description [Variation Report for NM_001110792.2(MECP2):c.690_693del (p.Lys231fs)]

NM_001110792.2(MECP2):c.690_693del (p.Lys231fs)

Gene:
MECP2:methyl-CpG binding protein 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110792.2(MECP2):c.690_693del (p.Lys231fs)
Other names:
NM_001110792.2(MECP2):c.690_693del; p.Lys231fs
HGVS:
  • NC_000023.11:g.154031172_154031175del
  • NG_007107.3:g.110930_110933del
  • NM_001110792.2:c.690_693delMANE SELECT
  • NM_001316337.2:c.375_378del
  • NM_001369391.2:c.375_378del
  • NM_001369392.2:c.375_378del
  • NM_001369393.2:c.375_378del
  • NM_001369394.2:c.375_378del
  • NM_001386137.1:c.-16_-13del
  • NM_001386138.1:c.-16_-13del
  • NM_001386139.1:c.-16_-13del
  • NM_004992.4:c.654_657del
  • NP_001104262.1:p.Lys231fs
  • NP_001303266.1:p.Lys126fs
  • NP_001356320.1:p.Lys126fs
  • NP_001356321.1:p.Lys126fs
  • NP_001356322.1:p.Lys126fs
  • NP_001356323.1:p.Lys126fs
  • NP_004983.1:p.Lys219fs
  • LRG_764t1:c.690_693del
  • LRG_764t2:c.654_657del
  • AJ132917.1:c.654_657delGAAG
  • LRG_764:g.110930_110933del
  • LRG_764p1:p.Lys231fs
  • LRG_764p2:p.Lys219fs
  • NC_000023.10:g.153296623_153296626del
  • NG_007107.2:g.110954_110957del
  • NM_004992.3:c.654_657delGAAG
Protein change:
K126fs
Links:
dbSNP: rs61749734
NCBI 1000 Genomes Browser:
rs61749734
Molecular consequence:
  • NM_001386137.1:c.-16_-13del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386138.1:c.-16_-13del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386139.1:c.-16_-13del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001110792.2:c.690_693del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001316337.2:c.375_378del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369391.2:c.375_378del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369392.2:c.375_378del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369393.2:c.375_378del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369394.2:c.375_378del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004992.4:c.654_657del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Rett syndrome (RTT)
Synonyms:
Autism, dementia, ataxia, and loss of purposeful hand use; Rett's disorder
Identifiers:
MONDO: MONDO:0010726; MedGen: C0035372; Orphanet: 3095; Orphanet: 778; OMIM: 312750

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
SCV000188187RettBASE
no assertion criteria provided
Pathogenic
(Feb 3, 2006) 		unknowncuration

SCV004808922Centre for Population Genomics, CPG
criteria provided, single submitter

(McKnight et al. (Hum Mutat. 2022))		Pathogenic
(Mar 26, 2024) 		germlinecuration

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedcuration
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods.

McKnight D, Bean L, Karbassi I, Beattie K, Bienvenu T, Bonin H, Fang P, Chrisodoulou J, Friez M, Helgeson M, Krishnaraj R, Meng L, Mighion L, Neul J, Percy A, Ramsden S, Zoghbi H, Das S.

Hum Mutat. 2022 Aug;43(8):1097-1113. doi: 10.1002/humu.24302. Epub 2021 Dec 2.

PubMed [citation]
PMID:
34837432
PMCID:
PMC9135956

Details of each submission

From RettBASE, SCV000188187.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcurationnot provided

Description

Rett syndrome - Classical

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1Blood or skinnot provided1not providednot providednot provided

From Centre for Population Genomics, CPG, SCV004808922.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

This variant has been collected from RettBASE and curated to current modified ACMG/AMP criteria. Based on the classification scheme defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders Specifications to the ACMG/AMP Variant Interpretation Guidelines VCEP 3.0, this variant is classified as pathogenic. At least the following criteria are met: Predicted to result in loss of function, and LOF is a known mechanism of disease (PVS1). At least one individual with this variant has been reported with a clinical phenotype consistent with Rett syndrome (PP4). PMID: 10767337 This variant is absent from gnomAD (PM2_Supporting).

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

Last Updated: Apr 15, 2024