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NM_001110792.2(MECP2):c.872C>T (p.Ala291Val) AND Rett syndrome

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Mar 25, 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:
RCV000133252.3

Allele description [Variation Report for NM_001110792.2(MECP2):c.872C>T (p.Ala291Val)]

NM_001110792.2(MECP2):c.872C>T (p.Ala291Val)

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.872C>T (p.Ala291Val)
Other names:
NM_001110792.2(MECP2):c.872C>T; p.Ala291Val
HGVS:
  • NC_000023.11:g.154030992G>A
  • NG_007107.3:g.111112C>T
  • NM_001110792.2:c.872C>TMANE SELECT
  • NM_001316337.2:c.557C>T
  • NM_001369391.2:c.557C>T
  • NM_001369392.2:c.557C>T
  • NM_001369393.2:c.557C>T
  • NM_001369394.2:c.557C>T
  • NM_001386137.1:c.167C>T
  • NM_001386138.1:c.167C>T
  • NM_001386139.1:c.167C>T
  • NM_004992.4:c.836C>T
  • NP_001104262.1:p.Ala291Val
  • NP_001303266.1:p.Ala186Val
  • NP_001356320.1:p.Ala186Val
  • NP_001356321.1:p.Ala186Val
  • NP_001356322.1:p.Ala186Val
  • NP_001356323.1:p.Ala186Val
  • NP_001373066.1:p.Ala56Val
  • NP_001373067.1:p.Ala56Val
  • NP_001373068.1:p.Ala56Val
  • NP_004983.1:p.Ala279Val
  • NP_004983.1:p.Ala279Val
  • LRG_764t1:c.872C>T
  • LRG_764t2:c.836C>T
  • AJ132917.1:c.836C>T
  • LRG_764:g.111112C>T
  • LRG_764p1:p.Ala291Val
  • LRG_764p2:p.Ala279Val
  • NC_000023.10:g.153296443G>A
  • NG_007107.2:g.111136C>T
  • NM_004992.3:c.836C>T
Protein change:
A186V
Links:
dbSNP: rs61750249
NCBI 1000 Genomes Browser:
rs61750249
Molecular consequence:
  • NM_001110792.2:c.872C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316337.2:c.557C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369391.2:c.557C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369392.2:c.557C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369393.2:c.557C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369394.2:c.557C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386137.1:c.167C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386138.1:c.167C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386139.1:c.167C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.4:c.836C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000188256RettBASE
no assertion criteria provided
Uncertain significance
(Dec 3, 2007) 		unknowncuration

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

SCV004808904Centre for Population Genomics, CPG
criteria provided, single submitter

(McKnight et al. (Hum Mutat. 2022))		Uncertain significance
(Mar 25, 2024) 		germlinecuration

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes3not providednot provided3Nocuration
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype.

Chae JH, Hwang H, Hwang YS, Cheong HJ, Kim KJ.

J Child Neurol. 2004 Jul;19(7):503-8.

PubMed [citation]
PMID:
15526954

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, SCV000188256.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedNocuration PubMed (1)
2not provided1not providedNocuration PubMed (1)
3not provided1not providedNocuration PubMed (1)

Description

"Rett syndrome - classical"

PubMed [ID: 15526954]

"Rett syndrome - classical"

PubMed [ID: 15526954]

"Rett syndrome - classical"

PubMed [ID: 15526954]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1bloodnot provided1not providednot providednot provided
2unknownyes1bloodnot provided1not providednot providednot provided
3unknownyes1bloodnot provided1not providednot providednot provided

From Centre for Population Genomics, CPG, SCV004808904.1

#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 a variant of uncertain significance. At least the following criteria are met: Has been observed in at least 3 individuals with phenotypes consistent with MECP2-related disease(PS4_Moderate). PMID 15526954 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