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NM_001110792.2(MECP2):c.1174G>A (p.Val392Met) AND X-linked intellectual disability-psychosis-macroorchidism syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 13, 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:
RCV000169942.9

Allele description [Variation Report for NM_001110792.2(MECP2):c.1174G>A (p.Val392Met)]

NM_001110792.2(MECP2):c.1174G>A (p.Val392Met)

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.1174G>A (p.Val392Met)
Other names:
p.V380M:GTG>ATG; NM_001110792.2(MECP2):c.1174G>A; p.Val392Met
HGVS:
  • NC_000023.11:g.154030690C>T
  • NG_007107.3:g.111414G>A
  • NM_001110792.2:c.1174G>AMANE SELECT
  • NM_001316337.2:c.859G>A
  • NM_001369391.2:c.859G>A
  • NM_001369392.2:c.859G>A
  • NM_001369393.2:c.859G>A
  • NM_001369394.2:c.859G>A
  • NM_001386137.1:c.469G>A
  • NM_001386138.1:c.469G>A
  • NM_001386139.1:c.469G>A
  • NM_004992.4:c.1138G>A
  • NP_001104262.1:p.Val392Met
  • NP_001303266.1:p.Val287Met
  • NP_001356320.1:p.Val287Met
  • NP_001356321.1:p.Val287Met
  • NP_001356322.1:p.Val287Met
  • NP_001356323.1:p.Val287Met
  • NP_001373066.1:p.Val157Met
  • NP_001373067.1:p.Val157Met
  • NP_001373068.1:p.Val157Met
  • NP_004983.1:p.Val380Met
  • NP_004983.1:p.Val380Met
  • LRG_764t1:c.1174G>A
  • LRG_764t2:c.1138G>A
  • AJ132917.1:c.1138G>A
  • LRG_764:g.111414G>A
  • LRG_764p1:p.Val392Met
  • LRG_764p2:p.Val380Met
  • NC_000023.10:g.153296141C>T
  • NG_007107.2:g.111438G>A
  • NM_004992.3:c.1138G>A
Protein change:
V157M
Links:
dbSNP: rs267608572
NCBI 1000 Genomes Browser:
rs267608572
Molecular consequence:
  • NM_001110792.2:c.1174G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316337.2:c.859G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369391.2:c.859G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369392.2:c.859G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369393.2:c.859G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369394.2:c.859G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386137.1:c.469G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386138.1:c.469G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386139.1:c.469G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.4:c.1138G>A - 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
SCV000187850RettBASE
no assertion criteria provided
Uncertain significance
(Jul 13, 2010) 		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

Methyl-CpG-binding protein 2 (MECP2) gene mutations in an Italian sample of patients with pervasive developmental disorder and mental retardation.

Parmeggiani A, Tedde MR, Arbizzani A, Posar A, Scaduto MC, Santucci M, Sangiorgi S.

J Child Neurol. 2009 Jun;24(6):772-4. doi: 10.1177/0883073808327834. Epub 2009 Feb 2.

PubMed [citation]
PMID:
19189931

Details of each submission

From RettBASE, SCV000187850.2

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

Description

"Not Rett synd. - mental retardation"

PubMed [ID: 19189931]

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

Last Updated: Sep 8, 2024