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NM_001110792.2(MECP2):c.714T>G (p.Phe238Leu) AND Rett syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 30, 2015
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:
RCV000225601.1

Allele description [Variation Report for NM_001110792.2(MECP2):c.714T>G (p.Phe238Leu)]

NM_001110792.2(MECP2):c.714T>G (p.Phe238Leu)

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.714T>G (p.Phe238Leu)
HGVS:
  • NC_000023.11:g.154031150A>C
  • NG_007107.2:g.110978T>G
  • NG_007107.3:g.110954T>G
  • NM_001110792.2:c.714T>GMANE SELECT
  • NM_001316337.2:c.399T>G
  • NM_001369391.2:c.399T>G
  • NM_001369392.2:c.399T>G
  • NM_001369393.2:c.399T>G
  • NM_001369394.2:c.399T>G
  • NM_001386137.1:c.9T>G
  • NM_001386138.1:c.9T>G
  • NM_001386139.1:c.9T>G
  • NM_004992.4:c.678T>G
  • NP_001104262.1:p.Phe238Leu
  • NP_001303266.1:p.Phe133Leu
  • NP_001356320.1:p.Phe133Leu
  • NP_001356321.1:p.Phe133Leu
  • NP_001356322.1:p.Phe133Leu
  • NP_001356323.1:p.Phe133Leu
  • NP_001373066.1:p.Phe3Leu
  • NP_001373067.1:p.Phe3Leu
  • NP_001373068.1:p.Phe3Leu
  • NP_004983.1:p.Phe226Leu
  • NP_004983.1:p.Phe226Leu
  • LRG_764t1:c.714T>G
  • LRG_764t2:c.678T>G
  • LRG_764:g.110954T>G
  • LRG_764p1:p.Phe238Leu
  • LRG_764p2:p.Phe226Leu
  • NC_000023.10:g.153296601A>C
  • NM_004992.3:c.678T>G
Protein change:
F133L
Links:
dbSNP: rs878853313
NCBI 1000 Genomes Browser:
rs878853313
Molecular consequence:
  • NM_001110792.2:c.714T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316337.2:c.399T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369391.2:c.399T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369392.2:c.399T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369393.2:c.399T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369394.2:c.399T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386137.1:c.9T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386138.1:c.9T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386139.1:c.9T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.4:c.678T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Rett syndrome (RTT)
Synonyms:
Autism, dementia, ataxia, and loss of purposeful hand use; MECP2-Related Disorders; Rett's disorder
Identifiers:
MONDO: MONDO:0010726; MedGen: C0035372; Orphanet: 3095; Orphanet: 778; OMIM: 312750

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000282494Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jul 30, 2015) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000282494.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The variant of interest causes a missense change involving a non-conserved nucleotide with 3/4 in silico programs predicting a "benign" outcome, although these predictions have yet to be functionally assessed. The variant of interest was not observed in controls (ExAC, ESP, or 1000 Gs), nor has it been reported in affected individuals via publications and/or reputable databases/clinical laboratories. The variant is classified as a variant of uncertain significance until additional information becomes available.

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

Last Updated: Sep 17, 2022