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NM_001110792.2(MECP2):c.550C>T (p.Pro184Ser) AND X-linked intellectual disability-psychosis-macroorchidism syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 10, 2010
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:
RCV000133146.2

Allele description [Variation Report for NM_001110792.2(MECP2):c.550C>T (p.Pro184Ser)]

NM_001110792.2(MECP2):c.550C>T (p.Pro184Ser)

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.550C>T (p.Pro184Ser)
Other names:
NM_001110792.2(MECP2):c.550C>T; p.Pro184Ser
HGVS:
  • NC_000023.11:g.154031314G>A
  • NG_007107.3:g.110790C>T
  • NM_001110792.2:c.550C>TMANE SELECT
  • NM_001316337.2:c.235C>T
  • NM_001369391.2:c.235C>T
  • NM_001369392.2:c.235C>T
  • NM_001369393.2:c.235C>T
  • NM_001369394.2:c.235C>T
  • NM_001386137.1:c.-128-28C>T
  • NM_001386138.1:c.-128-28C>T
  • NM_001386139.1:c.-128-28C>T
  • NM_004992.4:c.514C>T
  • NP_001104262.1:p.Pro184Ser
  • NP_001303266.1:p.Pro79Ser
  • NP_001356320.1:p.Pro79Ser
  • NP_001356321.1:p.Pro79Ser
  • NP_001356322.1:p.Pro79Ser
  • NP_001356323.1:p.Pro79Ser
  • NP_004983.1:p.Pro172Ser
  • NP_004983.1:p.Pro172Ser
  • LRG_764t1:c.550C>T
  • LRG_764t2:c.514C>T
  • AJ132917.1:c.514C>T
  • LRG_764:g.110790C>T
  • LRG_764p1:p.Pro184Ser
  • LRG_764p2:p.Pro172Ser
  • NC_000023.10:g.153296765G>A
  • NG_007107.2:g.110814C>T
  • NM_004992.3:c.514C>T
Protein change:
P172S
Links:
dbSNP: rs61748426
NCBI 1000 Genomes Browser:
rs61748426
Molecular consequence:
  • NM_001386137.1:c.-128-28C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386138.1:c.-128-28C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386139.1:c.-128-28C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001110792.2:c.550C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316337.2:c.235C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369391.2:c.235C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369392.2:c.235C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369393.2:c.235C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369394.2:c.235C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.4:c.514C>T - 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
SCV000188138RettBASE
no assertion criteria provided
Uncertain significance
(Mar 10, 2010) 		maternal, unknowncuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot provided1not providedcuration
not providedunknownno1not providednot provided1not providedcuration

Citations

PubMed

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

Details of each submission

From RettBASE, SCV000188138.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcuration PubMed (1)
2not provided1not providednot providedcuration PubMed (1)

Description

"Not Rett synd. - mental retardation and autism combined"

PubMed [ID: 17084570]

"Not Rett synd. - unaffected family member"

PubMed [ID: 17084570]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyes1bloodnot provided1not providednot providednot provided
2unknownno1bloodnot provided1not providednot providednot provided

Last Updated: Sep 29, 2024