NM_001110792.2(MECP2):c.719C>G (p.Thr240Ser) AND not specified

Germline classification:: Benign (4 submissions)
Last evaluated:: May 25, 2017
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000146356.18

Allele description [Variation Report for NM_001110792.2(MECP2):c.719C>G (p.Thr240Ser)]

NM_001110792.2(MECP2):c.719C>G (p.Thr240Ser)

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.719C>G (p.Thr240Ser)

Other names:

NM_001110792.2(MECP2):c.719C>G; p.Thr240Ser

HGVS:

NC_000023.11:g.154031145G>C
NG_007107.3:g.110959C>G
NM_001110792.2:c.719C>GMANE SELECT
NM_001316337.2:c.404C>G
NM_001369391.2:c.404C>G
NM_001369392.2:c.404C>G
NM_001369393.2:c.404C>G
NM_001369394.2:c.404C>G
NM_001386137.1:c.14C>G
NM_001386138.1:c.14C>G
NM_001386139.1:c.14C>G
NM_004992.4:c.683C>G
NP_001104262.1:p.Thr240Ser
NP_001303266.1:p.Thr135Ser
NP_001356320.1:p.Thr135Ser
NP_001356321.1:p.Thr135Ser
NP_001356322.1:p.Thr135Ser
NP_001356323.1:p.Thr135Ser
NP_001373066.1:p.Thr5Ser
NP_001373067.1:p.Thr5Ser
NP_001373068.1:p.Thr5Ser
NP_004983.1:p.Thr228Ser
NP_004983.1:p.Thr228Ser
LRG_764t1:c.719C>G
LRG_764t2:c.683C>G
AJ132917.1:c.683C>G
LRG_764:g.110959C>G
LRG_764p1:p.Thr240Ser
LRG_764p2:p.Thr228Ser
NC_000023.10:g.153296596G>C
NG_007107.2:g.110983C>G
NM_001110792.1:c.719C>G
NM_004992.3:c.683C>G
P51608:p.Thr228Ser

Protein change:

T135S

Links:

UniProtKB: P51608#VAR_018199; dbSNP: rs61749738

NCBI 1000 Genomes Browser:

rs61749738

Molecular consequence:

NM_001110792.2:c.719C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001316337.2:c.404C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369391.2:c.404C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369392.2:c.404C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369393.2:c.404C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369394.2:c.404C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386137.1:c.14C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386138.1:c.14C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386139.1:c.14C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004992.4:c.683C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000188196	RettBASE	no assertion criteria provided	Benign (Dec 5, 2013)	maternal, unknown	curation	PubMed (3) [See all records that cite these PMIDs] 12111644, 17084570, 23810759
SCV000193638	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2007)	Benign (Feb 8, 2013)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000604144	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Benign (Sep 7, 2016)	germline	clinical testing	Citation Link,
SCV000700306	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (May 25, 2017)	germline	clinical testing	Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	not provided	4	not provided	not provided	4	No	curation
not provided	maternal	not provided	1	not provided	not provided	1	not provided	curation
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Low frequency of MECP2 mutations in mentally retarded males.

Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BB, Nillesen W, Sistermans EA, Brunner HG, Hamel BC, van Bokhoven H.

Eur J Hum Genet. 2002 Aug;10(8):487-90.

PubMed [citation]

PMID:: 12111644

Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males.

Campos M Jr, Abdalla CB, Santos-Rebouças CB, dos Santos AV, Pestana CP, Domingues ML, dos Santos JM, Pimentel MM.

Brain Dev. 2007 Jun;29(5):293-7. Epub 2006 Nov 3.

PubMed [citation]

PMID:: 17084570

See all PubMed Citations (4)

Details of each submission

From RettBASE, SCV000188196.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	No	curation	PubMed (3)
2	not provided	1	not provided	not provided	curation	PubMed (3)
3	not provided	1	not provided	Yes	curation	PubMed (3)
4	not provided	1	not provided	No	curation	PubMed (3)
5	not provided	1	not provided	not provided	curation	PubMed (3)

Description

Not Rett synd. - normal control

"Not Rett synd. - mental retardation"

PubMed [ID: 12111644]

"Not Rett synd. - unaffected family member"

PubMed [ID: 12111644]

"Rett syndrome - Not certain"

PubMed [ID: 17084570]

"Not Rett synd. - mental retardation"

PubMed [ID: 23810759]

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	not provided	1	not stated	not provided		1	not provided	not provided	not provided
2	maternal	not provided	1	not known	not provided		1	not provided	not provided	not provided
3	unknown	not provided	1	NK	not provided		1	not provided	not provided	not provided
4	unknown	not provided	1	Blood	not provided		1	not provided	not provided	not provided
5	unknown	not provided	1	blood	not provided		1	not provided	not provided	not provided

From Genetic Services Laboratory, University of Chicago, SCV000193638.1

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000604144.1

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

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

From Eurofins Ntd Llc (ga), SCV000700306.2

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

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

Last Updated: Nov 10, 2024

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