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NM_001110792.2(MECP2):c.722C>T (p.Ser241Leu) AND Rett syndrome

Germline classification:
Benign (1 submission)
Last evaluated:
Mar 13, 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:
RCV003990996.1

Allele description [Variation Report for NM_001110792.2(MECP2):c.722C>T (p.Ser241Leu)]

NM_001110792.2(MECP2):c.722C>T (p.Ser241Leu)

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.722C>T (p.Ser241Leu)
Other names:
NM_001110792.2(MECP2):c.722C>T; p.Ser241Leu
HGVS:
  • NC_000023.11:g.154031142G>A
  • NG_007107.3:g.110962C>T
  • NM_001110792.2:c.722C>TMANE SELECT
  • NM_001316337.2:c.407C>T
  • NM_001369391.2:c.407C>T
  • NM_001369392.2:c.407C>T
  • NM_001369393.2:c.407C>T
  • NM_001369394.2:c.407C>T
  • NM_001386137.1:c.17C>T
  • NM_001386138.1:c.17C>T
  • NM_001386139.1:c.17C>T
  • NM_004992.4:c.686C>T
  • NP_001104262.1:p.Ser241Leu
  • NP_001303266.1:p.Ser136Leu
  • NP_001356320.1:p.Ser136Leu
  • NP_001356321.1:p.Ser136Leu
  • NP_001356322.1:p.Ser136Leu
  • NP_001356323.1:p.Ser136Leu
  • NP_001373066.1:p.Ser6Leu
  • NP_001373067.1:p.Ser6Leu
  • NP_001373068.1:p.Ser6Leu
  • NP_004983.1:p.Ser229Leu
  • NP_004983.1:p.Ser229Leu
  • LRG_764t1:c.722C>T
  • LRG_764t2:c.686C>T
  • AJ132917.1:c.686C>T
  • LRG_764:g.110962C>T
  • LRG_764p1:p.Ser241Leu
  • LRG_764p2:p.Ser229Leu
  • NC_000023.10:g.153296593G>A
  • NG_007107.2:g.110986C>T
  • NM_004992.3:c.686C>T
  • P51608:p.Ser229Leu
Protein change:
S136L
Links:
UniProtKB: P51608#VAR_018200; dbSNP: rs61749739
NCBI 1000 Genomes Browser:
rs61749739
Molecular consequence:
  • NM_001110792.2:c.722C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316337.2:c.407C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369391.2:c.407C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369392.2:c.407C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369393.2:c.407C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369394.2:c.407C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386137.1:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386138.1:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386139.1:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.4:c.686C>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
SCV004808983Centre for Population Genomics, CPG
criteria provided, single submitter

(McKnight et al. (Hum Mutat. 2022))		Benign
(Mar 13, 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

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 Centre for Population Genomics, CPG, SCV004808983.1

#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 benign. At least the following criteria are met: The allele frequency of this variant in at least one population in gnomAD is higher than the 0.03% threshold defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders VCEP 3.0 (BA1).

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

Last Updated: Sep 29, 2024