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NM_001110792.2(MECP2):c.715C>G (p.Gln239Glu) AND X-linked intellectual disability-psychosis-macroorchidism syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 1, 2007
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000133197.2

Allele description [Variation Report for NM_001110792.2(MECP2):c.715C>G (p.Gln239Glu)]

NM_001110792.2(MECP2):c.715C>G (p.Gln239Glu)

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.715C>G (p.Gln239Glu)
Other names:
NM_001110792.2(MECP2):c.715C>G; p.Gln239Glu
HGVS:
  • NC_000023.11:g.154031149G>C
  • NG_007107.3:g.110955C>G
  • NM_001110792.2:c.715C>GMANE SELECT
  • NM_001316337.2:c.400C>G
  • NM_001369391.2:c.400C>G
  • NM_001369392.2:c.400C>G
  • NM_001369393.2:c.400C>G
  • NM_001369394.2:c.400C>G
  • NM_001386137.1:c.10C>G
  • NM_001386138.1:c.10C>G
  • NM_001386139.1:c.10C>G
  • NM_004992.4:c.679C>G
  • NP_001104262.1:p.Gln239Glu
  • NP_001303266.1:p.Gln134Glu
  • NP_001356320.1:p.Gln134Glu
  • NP_001356321.1:p.Gln134Glu
  • NP_001356322.1:p.Gln134Glu
  • NP_001356323.1:p.Gln134Glu
  • NP_001373066.1:p.Gln4Glu
  • NP_001373067.1:p.Gln4Glu
  • NP_001373068.1:p.Gln4Glu
  • NP_004983.1:p.Gln227Glu
  • NP_004983.1:p.Gln227Glu
  • LRG_764t1:c.715C>G
  • LRG_764t2:c.679C>G
  • AJ132917.1:c.679C>G
  • LRG_764:g.110955C>G
  • LRG_764p1:p.Gln239Glu
  • LRG_764p2:p.Gln227Glu
  • NC_000023.10:g.153296600G>C
  • NG_007107.2:g.110979C>G
  • NM_004992.3:c.679C>G
Protein change:
Q134E
Links:
dbSNP: rs61749737
NCBI 1000 Genomes Browser:
rs61749737
Molecular consequence:
  • NM_001110792.2:c.715C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316337.2:c.400C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369391.2:c.400C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369392.2:c.400C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369393.2:c.400C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369394.2:c.400C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386137.1:c.10C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386138.1:c.10C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386139.1:c.10C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.4:c.679C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
X-linked intellectual disability-psychosis-macroorchidism syndrome (MRXS13)
Synonyms:
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13; PPM-X syndrome
Identifiers:
MONDO: MONDO:0010235; MedGen: C0796222; Orphanet: 3077; OMIM: 300055

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000188195RettBASE
no assertion criteria provided
Uncertain significance
(Nov 1, 2007) 		unknowncuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedcuration

Citations

PubMed

Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation.

Lesca G, Bernard V, Bozon M, Touraine R, Gérard D, Edery P, Calender A.

Eur J Med Genet. 2007 May-Jun;50(3):200-8. Epub 2007 Feb 20.

PubMed [citation]
PMID:
17383248

Details of each submission

From RettBASE, SCV000188195.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcuration PubMed (1)

Description

"Not Rett synd. - sporadic mental retardation"

PubMed [ID: 17383248]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1bloodnot provided1not providednot providednot provided

Last Updated: Sep 29, 2024