NM_001110792.2(MECP2):c.261G>A (p.Pro87=) AND not specified

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Dec 28, 2016
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:: RCV000133036.6

Allele description [Variation Report for NM_001110792.2(MECP2):c.261G>A (p.Pro87=)]

NM_001110792.2(MECP2):c.261G>A (p.Pro87=)

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.261G>A (p.Pro87=)

Other names:

NM_001110792.2(MECP2):c.261G>A; p.Pro87=

HGVS:

NC_000023.11:g.154032359C>T
NG_007107.3:g.109745G>A
NM_001110792.2:c.261G>AMANE SELECT
NM_001316337.2:c.-55G>A
NM_001369391.2:c.-55G>A
NM_001369392.2:c.-55G>A
NM_001369393.2:c.-55G>A
NM_001369394.2:c.-55G>A
NM_001386137.1:c.-336G>A
NM_001386138.1:c.-336G>A
NM_001386139.1:c.-336G>A
NM_004992.4:c.225G>A
NP_001104262.1:p.Pro87=
NP_004983.1:p.Pro75=
NP_004983.1:p.Pro75=
LRG_764t1:c.261G>A
LRG_764t2:c.225G>A
AJ132917.1:c.225G>A
LRG_764:g.109745G>A
LRG_764p1:p.Pro87=
LRG_764p2:p.Pro75=
NC_000023.10:g.153297810C>T
NC_000023.10:g.153297810C>T
NG_007107.2:g.109769G>A
NM_004992.3:c.225G>A

Links:

dbSNP: rs61754442

NCBI 1000 Genomes Browser:

rs61754442

Molecular consequence:

NM_001316337.2:c.-55G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001369391.2:c.-55G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001369392.2:c.-55G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001369393.2:c.-55G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001369394.2:c.-55G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001386137.1:c.-336G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001386138.1:c.-336G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001386139.1:c.-336G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001110792.2:c.261G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_004992.4:c.225G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000188024	RettBASE	no assertion criteria provided	Benign (Dec 3, 2007)	unknown	curation	PubMed (1) [See all records that cite this PMID]
SCV000515609	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely benign (Dec 28, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000188024

RettBASE

no assertion criteria provided

Benign
(Dec 3, 2007)

unknown

curation

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

SCV000515609

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely benign
(Dec 28, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	not provided	1	not provided	not provided	1	not provided	curation

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

Details of each submission

From RettBASE, SCV000188024.2

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

Description

"Not Rett synd. - mental retardation"

PubMed [ID: 12111644]

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

From GeneDx, SCV000515609.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Sep 29, 2024

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