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NM_001110792.2(MECP2):c.377G>C (p.Gly126Ala) AND Rett syndrome

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jan 11, 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:
RCV000133073.4

Allele description [Variation Report for NM_001110792.2(MECP2):c.377G>C (p.Gly126Ala)]

NM_001110792.2(MECP2):c.377G>C (p.Gly126Ala)

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.377G>C (p.Gly126Ala)
Other names:
NM_001110792.2(MECP2):c.377G>C; p.Gly126Ala
HGVS:
  • NC_000023.11:g.154032243C>G
  • NG_007107.3:g.109861G>C
  • NM_001110792.2:c.377G>CMANE SELECT
  • NM_001316337.2:c.62G>C
  • NM_001369391.2:c.62G>C
  • NM_001369392.2:c.62G>C
  • NM_001369393.2:c.62G>C
  • NM_001369394.2:c.62G>C
  • NM_001386137.1:c.-220G>C
  • NM_001386138.1:c.-220G>C
  • NM_001386139.1:c.-220G>C
  • NM_004992.4:c.341G>C
  • NP_001104262.1:p.Gly126Ala
  • NP_001303266.1:p.Gly21Ala
  • NP_001356320.1:p.Gly21Ala
  • NP_001356321.1:p.Gly21Ala
  • NP_001356322.1:p.Gly21Ala
  • NP_001356323.1:p.Gly21Ala
  • NP_004983.1:p.Gly114Ala
  • NP_004983.1:p.Gly114Ala
  • LRG_764t1:c.377G>C
  • LRG_764t2:c.341G>C
  • AJ132917.1:c.341G>C
  • LRG_764:g.109861G>C
  • LRG_764p1:p.Gly126Ala
  • LRG_764p2:p.Gly114Ala
  • NC_000023.10:g.153297694C>G
  • NG_007107.2:g.109885G>C
  • NM_004992.3:c.341G>C
Protein change:
G114A
Links:
dbSNP: rs61755760
NCBI 1000 Genomes Browser:
rs61755760
Molecular consequence:
  • NM_001386137.1:c.-220G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386138.1:c.-220G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386139.1:c.-220G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001110792.2:c.377G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316337.2:c.62G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369391.2:c.62G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369392.2:c.62G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369393.2:c.62G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369394.2:c.62G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.4:c.341G>C - 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
SCV000188061RettBASE
no assertion criteria provided
Uncertain significance
(Jul 28, 2004) 		de novocuration

SCV004232297Centre for Population Genomics, CPG
criteria provided, single submitter

(McKnight et al. (Hum Mutat. 2022))		Uncertain significance
(Jan 11, 2024) 		germlinecuration

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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, SCV000188061.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcurationnot provided

Description

Rett syndrome - Not certain

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1Bloodnot provided1not providednot providednot provided

From Centre for Population Genomics, CPG, SCV004232297.1

#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: Computational prediction analysis tools suggests a deleterious impact (REVEL score>= 0.75) (PP3). This variant is absent from gnomAD (PM2_Supporting). Occurs in the well-characterized Methyl-DNA binding (MDB) functional domain of MECP2 (PM1).

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

Last Updated: Feb 28, 2024