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NM_001110792.2(MECP2):c.251dup (p.Ala85fs) AND Rett syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jan 14, 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:
RCV000133034.4

Allele description [Variation Report for NM_001110792.2(MECP2):c.251dup (p.Ala85fs)]

NM_001110792.2(MECP2):c.251dup (p.Ala85fs)

Gene:
MECP2:methyl-CpG binding protein 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110792.2(MECP2):c.251dup (p.Ala85fs)
Other names:
NM_001110792.2(MECP2):c.251dup; p.Ala85fs
HGVS:
  • NC_000023.11:g.154032372dup
  • NG_007107.3:g.109735dup
  • NM_001110792.2:c.251dupMANE SELECT
  • NM_001316337.2:c.-65dup
  • NM_001369391.2:c.-65dup
  • NM_001369392.2:c.-65dup
  • NM_001369393.2:c.-65dup
  • NM_001369394.2:c.-65dup
  • NM_001386137.1:c.-346dup
  • NM_001386138.1:c.-346dup
  • NM_001386139.1:c.-346dup
  • NM_004992.4:c.215dup
  • NP_001104262.1:p.Ala85fs
  • NP_004983.1:p.Ala73fs
  • LRG_764t1:c.251dup
  • LRG_764t2:c.215dup
  • AJ132917.1:c.215dupC
  • LRG_764:g.109735dup
  • LRG_764p1:p.Ala85fs
  • LRG_764p2:p.Ala73fs
  • NC_000023.10:g.153297823dup
  • NG_007107.2:g.109759dup
  • NM_004992.3:c.215dupC
Protein change:
A73fs
Links:
dbSNP: rs61754441
NCBI 1000 Genomes Browser:
rs61754441
Molecular consequence:
  • NM_001316337.2:c.-65dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369391.2:c.-65dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369392.2:c.-65dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369393.2:c.-65dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369394.2:c.-65dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386137.1:c.-346dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386138.1:c.-346dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386139.1:c.-346dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001110792.2:c.251dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004992.4:c.215dup - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000188022RettBASE
no assertion criteria provided
Pathogenic
(Dec 3, 2007) 		unknowncuration

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

SCV004232189Centre for Population Genomics, CPG
criteria provided, single submitter

(McKnight et al. (Hum Mutat. 2022))		Pathogenic
(Jan 14, 2024) 		germlinecuration

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration
not providedunknownyes1not providednot provided1Nocuration

Citations

PubMed

Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases.

Kammoun F, de Roux N, Boespflug-Tanguy O, Vallée L, Seng R, Tardieu M, Landrieu P.

J Med Genet. 2004 Jun;41(6):e85. No abstract available.

PubMed [citation]
PMID:
15173251
PMCID:
PMC1735791

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, SCV000188022.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedNocuration PubMed (1)

Description

"Rett syndrome - classical"

PubMed [ID: 15173251]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1bloodnot provided1not providednot providednot provided

From Centre for Population Genomics, CPG, SCV004232189.1

#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: 15173251 This variant is absent from gnomAD (PM2_Supporting).

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

Last Updated: Feb 28, 2024