NM_001110792.2(MECP2):c.714del (p.Gln239fs) AND Rett syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 7, 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:: RCV000445569.1

Allele description

NM_001110792.2(MECP2):c.714del (p.Gln239fs)

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.714del (p.Gln239fs)

HGVS:

NC_000023.11:g.154031153del
NG_007107.2:g.110978del
NG_007107.3:g.110954del
NM_001110792.2:c.714delMANE SELECT
NM_001316337.2:c.399del
NM_001369391.2:c.399del
NM_001369392.2:c.399del
NM_001369393.2:c.399del
NM_001369394.2:c.399del
NM_001386137.1:c.9del
NM_001386138.1:c.9del
NM_001386139.1:c.9del
NM_004992.4:c.678del
NP_001104262.1:p.Gln239fs
NP_001303266.1:p.Gln134fs
NP_001356320.1:p.Gln134fs
NP_001356321.1:p.Gln134fs
NP_001356322.1:p.Gln134fs
NP_001356323.1:p.Gln134fs
NP_001373066.1:p.Gln4fs
NP_001373067.1:p.Gln4fs
NP_001373068.1:p.Gln4fs
NP_004983.1:p.Gln227fs
LRG_764t1:c.714del
LRG_764t2:c.678del
LRG_764:g.110954del
LRG_764p1:p.Gln239fs
LRG_764p2:p.Gln227fs
NC_000023.10:g.153296604del
NM_004992.3:c.678delT

Protein change:

Q134fs

Links:

dbSNP: rs1060499621

NCBI 1000 Genomes Browser:

rs1060499621

Molecular consequence:

NM_001110792.2:c.714del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001316337.2:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369391.2:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369392.2:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369393.2:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369394.2:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001386137.1:c.9del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001386138.1:c.9del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001386139.1:c.9del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004992.4:c.678del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000537174	Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 7, 2015)	de novo	clinical testing	PubMed (2) [See all records that cite these PMIDs] 23696494, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000537174

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

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 7, 2015)

de novo

clinical testing

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

Description

p.Gln227Lysfs*21: SCV000537174

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	not provided	not provided	clinical 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, SCV000537174.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 17, 2022

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