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NM_001110792.2(MECP2):c.-27_-26delinsTT 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:
RCV000170284.1

Allele description [Variation Report for NM_001110792.2(MECP2):c.-27_-26delinsTT]

NM_001110792.2(MECP2):c.-27_-26delinsTT

Genes:
LOC130068854:ATAC-STARR-seq lymphoblastoid silent region 21085 [Gene]
MECP2:methyl-CpG binding protein 2 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110792.2(MECP2):c.-27_-26delinsTT
HGVS:
  • NC_000023.11:g.154097691_154097692delinsAA
  • NG_007107.3:g.44412_44413delinsTT
  • NM_001110792.2:c.-27_-26delinsTTMANE SELECT
  • NM_001316337.2:c.-634_-633delinsTT
  • NM_001369391.2:c.-929_-928delinsTT
  • NM_001369392.2:c.-578_-577delinsTT
  • NM_001369393.2:c.-454_-453delinsTT
  • NM_001386137.1:c.-859_-858delinsTT
  • NM_001386138.1:c.-747_-746delinsTT
  • NM_001386139.1:c.-623_-622delinsTT
  • NM_004992.4:c.-187_-186delinsTT
  • LRG_764t1:c.-27_-26delinsTT
  • LRG_764t2:c.-187_-186delinsTT
  • LRG_764:g.44412_44413delinsTT
  • NC_000023.10:g.153363148_153363149delinsAA
  • NG_007107.2:g.44430_44431delinsTT
Links:
dbSNP: rs786205039
NCBI 1000 Genomes Browser:
rs786205039
Molecular consequence:
  • NM_001110792.2:c.-27_-26delinsTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001316337.2:c.-634_-633delinsTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369391.2:c.-929_-928delinsTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369392.2:c.-578_-577delinsTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369393.2:c.-454_-453delinsTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386137.1:c.-859_-858delinsTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386138.1:c.-747_-746delinsTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386139.1:c.-623_-622delinsTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_004992.4:c.-187_-186delinsTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

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
SCV000222616RettBASE
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

Sequence variants within exon 1 of MECP2 occur in females with mental retardation.

Harvey CG, Menon SD, Stachowiak B, Noor A, Proctor A, Mensah AK, Mnatzakanian GN, Alfred SE, Guo R, Scherer SW, Kennedy JL, Roberts W, Srivastava AK, Minassian BA, Vincent JB.

Am J Med Genet B Neuropsychiatr Genet. 2007 Apr 5;144B(3):355-60. Erratum in: Am J Med Genet B Neuropsychiatr Genet. 2007 Oct 5;144(7):969. Srivistava, Anand K [corrected to Srivastava, Anand K].

PubMed [citation]
PMID:
17171659

Details of each submission

From RettBASE, SCV000222616.1

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

Description

"Mental retardation, X-linked, syndromic 13"

PubMed [ID: 17171659]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not specifiednot provided1not providednot providednot provided

Last Updated: Feb 28, 2024