NM_001110792.2(MECP2):c.1209_*6del (p.Glu404fs) AND Rett syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 28, 2021
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:: RCV001754565.2

Allele description [Variation Report for NM_001110792.2(MECP2):c.1209_*6del (p.Glu404fs)]

NM_001110792.2(MECP2):c.1209_*6del (p.Glu404fs)

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.1209_*6del (p.Glu404fs)

HGVS:

NC_000023.11:g.154030362_154030656del
NG_007107.3:g.111449_111743del
NM_001110792.2:c.1209_*6delMANE SELECT
NM_001316337.2:c.894_*6del
NM_001369391.2:c.894_*6del
NM_001369392.2:c.894_*6del
NM_001369393.2:c.894_*6del
NM_001369394.2:c.894_*6del
NM_001386137.1:c.504_*6del
NM_001386138.1:c.504_*6del
NM_001386139.1:c.504_*6del
NM_004992.4:c.1173_*6del
NP_001104262.1:p.Glu404fs
NP_001303266.1:p.Glu299fs
NP_001356320.1:p.Glu299fs
NP_001356321.1:p.Glu299fs
NP_001356322.1:p.Glu299fs
NP_001356323.1:p.Glu299fs
NP_001373066.1:p.Glu169fs
NP_001373067.1:p.Glu169fs
NP_001373068.1:p.Glu169fs
NP_004983.1:p.Glu392fs
LRG_764t1:c.1209_*6del
LRG_764t2:c.1173_*6del
LRG_764:g.111449_111743del
LRG_764p1:p.Glu404fs
LRG_764p2:p.Glu392fs
NC_000023.10:g.153295813_153296107del
NG_007107.2:g.111473_111767del
NM_004992.3:c.1172_*5del

Protein change:

E169fs

Links:

dbSNP: rs2148658325

NCBI 1000 Genomes Browser:

rs2148658325

Molecular consequence:

NM_001110792.2:c.1209_*6del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001316337.2:c.894_*6del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369391.2:c.894_*6del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369392.2:c.894_*6del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369393.2:c.894_*6del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369394.2:c.894_*6del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001386137.1:c.504_*6del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001386138.1:c.504_*6del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001386139.1:c.504_*6del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004992.4:c.1173_*6del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001994809	Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 28, 2021)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001994809

Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 28, 2021)

de novo

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV001994809.1

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

#	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		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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