NM_001110792.2(MECP2):c.1130_1174del (p.Glu377_Pro391del) AND Rett syndrome

Clinical significance:Likely pathogenic (Last evaluated: Jul 10, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000445564.1

Allele description [Variation Report for NM_001110792.2(MECP2):c.1130_1174del (p.Glu377_Pro391del)]

NM_001110792.2(MECP2):c.1130_1174del (p.Glu377_Pro391del)

Gene:
MECP2:methyl-CpG binding protein 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110792.2(MECP2):c.1130_1174del (p.Glu377_Pro391del)
HGVS:
  • NC_000023.11:g.154030691_154030735del
  • NG_007107.2:g.111394_111438del
  • NG_007107.3:g.111370_111414del
  • NM_001110792.2:c.1130_1174delMANE SELECT
  • NM_001316337.2:c.815_859del
  • NM_001369391.2:c.815_859del
  • NM_001369392.2:c.815_859del
  • NM_001369393.2:c.815_859del
  • NM_001369394.2:c.815_859del
  • NM_001386137.1:c.425_469del
  • NM_001386138.1:c.425_469del
  • NM_001386139.1:c.425_469del
  • NM_004992.4:c.1094_1138del
  • NP_001104262.1:p.Glu377_Pro391del
  • NP_001303266.1:p.Glu272_Pro286del
  • NP_001356320.1:p.Glu272_Pro286del
  • NP_001356321.1:p.Glu272_Pro286del
  • NP_001356322.1:p.Glu272_Pro286del
  • NP_001356323.1:p.Glu272_Pro286del
  • NP_001373066.1:p.Glu142_Pro156del
  • NP_001373067.1:p.Glu142_Pro156del
  • NP_001373068.1:p.Glu142_Pro156del
  • NP_004983.1:p.Glu365_Pro379del
  • LRG_764t1:c.1130_1174del
  • LRG_764t2:c.1094_1138del
  • LRG_764:g.111370_111414del
  • LRG_764p1:p.Glu377_Pro391del
  • LRG_764p2:p.Glu365_Pro379del
  • NC_000023.10:g.153296142_153296186del
  • NM_004992.3:c.1094_1138del45
Links:
dbSNP: rs1064792899
NCBI 1000 Genomes Browser:
rs1064792899
Molecular consequence:
  • NM_001110792.2:c.1130_1174del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001316337.2:c.815_859del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001369391.2:c.815_859del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001369392.2:c.815_859del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001369393.2:c.815_859del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001369394.2:c.815_859del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001386137.1:c.425_469del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001386138.1:c.425_469del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001386139.1:c.425_469del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_004992.4:c.1094_1138del - inframe_deletion - [Sequence Ontology: SO:0001822]
Observations:
1

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000537182Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Childrencriteria provided, single submitter
Likely pathogenic
(Jul 10, 2015)
de novoclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Description

p.Glu365_Pro379del

SCV000537182

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.

Chapleau CA, Lane J, Kirwin SM, Schanen C, Vinette KM, Stubbolo D, MacLeod P, Glaze DG, Motil KJ, Neul JL, Skinner SA, Kaufmann WE, Percy AK.

Am J Med Genet A. 2013 Jul;161A(7):1638-46. doi: 10.1002/ajmg.a.35979. Epub 2013 May 21. Erratum in: Am J Med Genet A. 2014 May;164A(5):1346. Glaze, Daniel G [added]; Motil, Kathleen J [added]; Neul, Jeffrey L [added]; Skinner, Steven A [added]; Kaufmann, Walter E [added].

PubMed [citation]
PMID:
23696494
PMCID:
PMC3689857

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children, SCV000537182.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 24, 2021

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