NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) AND Intellectual disability

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 25, 2014
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:: RCV000224156.9

Allele description [Variation Report for NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)]

NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)

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.952C>T (p.Arg318Cys)

Other names:

p.R306C:CGC>TGC; p.Arg318Cys; NM_001110792.2(MECP2):c.952C>T

HGVS:

NC_000023.11:g.154030912G>A
NG_007107.3:g.111192C>T
NM_001110792.2:c.952C>TMANE SELECT
NM_001316337.2:c.637C>T
NM_001369391.2:c.637C>T
NM_001369392.2:c.637C>T
NM_001369393.2:c.637C>T
NM_001369394.2:c.637C>T
NM_001386137.1:c.247C>T
NM_001386138.1:c.247C>T
NM_001386139.1:c.247C>T
NM_004992.4:c.916C>T
NP_001104262.1:p.Arg318Cys
NP_001303266.1:p.Arg213Cys
NP_001356320.1:p.Arg213Cys
NP_001356321.1:p.Arg213Cys
NP_001356322.1:p.Arg213Cys
NP_001356323.1:p.Arg213Cys
NP_001373066.1:p.Arg83Cys
NP_001373067.1:p.Arg83Cys
NP_001373068.1:p.Arg83Cys
NP_004983.1:p.Arg306Cys
NP_004983.1:p.Arg306Cys
NP_004983.1:p.Arg306Cys
LRG_764t1:c.952C>T
LRG_764t2:c.916C>T
AJ132917.1:c.916C>T
LRG_764:g.111192C>T
LRG_764p1:p.Arg318Cys
LRG_764p2:p.Arg306Cys
NC_000023.10:g.153296363G>A
NG_007107.2:g.111216C>T
NM_001110792.1:c.952C>T
NM_004992.3(MECP2):c.916C>T
NM_004992.3:c.916C>T
NM_004992.4:c.916C>T
P51608:p.Arg306Cys
g.153296363G>A
p.(Arg306Cys)

Protein change:

R213C; ARG306CYS

Links:

UniProtKB: P51608#VAR_010282; OMIM: 300005.0016; dbSNP: rs28935468

NCBI 1000 Genomes Browser:

rs28935468

Molecular consequence:

NM_001110792.2:c.952C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001316337.2:c.637C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001369391.2:c.637C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001369392.2:c.637C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001369393.2:c.637C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001369394.2:c.637C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001386137.1:c.247C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001386138.1:c.247C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001386139.1:c.247C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_004992.4:c.916C>T - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

Unknown function

Observations:

Condition(s)

Name:: Intellectual disability
Synonyms:: Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:: MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000281744	Diagnostic Laboratory, Strasbourg University Hospital	criteria provided, single submitter (submitter's publication)	Pathogenic (Jul 25, 2014)	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

SCV000281744

Diagnostic Laboratory, Strasbourg University Hospital

criteria provided, single submitter

(submitter's publication)

Pathogenic
(Jul 25, 2014)

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	1	not provided	not provided	106	not provided	clinical testing

Citations

PubMed

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

Redin C, Gérard B, Lauer J, Herenger Y, Muller J, Quartier A, Masurel-Paulet A, Willems M, Lesca G, El-Chehadeh S, Le Gras S, Vicaire S, Philipps M, Dumas M, Geoffroy V, Feger C, Haumesser N, Alembik Y, Barth M, Bonneau D, Colin E, Dollfus H, et al.

J Med Genet. 2014 Nov;51(11):724-36. doi: 10.1136/jmedgenet-2014-102554. Epub 2014 Aug 28.

PubMed [citation]

PMID:: 25167861
PMCID:: PMC4215287

Details of each submission

From Diagnostic Laboratory, Strasbourg University Hospital, SCV000281744.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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	106	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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