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NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) AND X-linked intellectual disability-psychosis-macroorchidism syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 5, 2013
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:
RCV000170107.11

Allele description [Variation Report for NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)]

NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)

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.433C>T (p.Arg145Cys)
Other names:
p.R133C:CGC>TGC; NM_001110792.2(MECP2):c.433C>T
HGVS:
  • NC_000023.11:g.154031431G>A
  • NG_007107.3:g.110673C>T
  • NM_001110792.2:c.433C>TMANE SELECT
  • NM_001316337.2:c.118C>T
  • NM_001369391.2:c.118C>T
  • NM_001369392.2:c.118C>T
  • NM_001369393.2:c.118C>T
  • NM_001369394.2:c.118C>T
  • NM_001386137.1:c.-164C>T
  • NM_001386138.1:c.-164C>T
  • NM_001386139.1:c.-164C>T
  • NM_004992.4:c.397C>T
  • NP_001104262.1:p.Arg145Cys
  • NP_001303266.1:p.Arg40Cys
  • NP_001356320.1:p.Arg40Cys
  • NP_001356321.1:p.Arg40Cys
  • NP_001356322.1:p.Arg40Cys
  • NP_001356323.1:p.Arg40Cys
  • NP_004983.1:p.Arg133Cys
  • NP_004983.1:p.Arg133Cys
  • LRG_764t1:c.433C>T
  • LRG_764t2:c.397C>T
  • AJ132917.1:c.397C>T
  • LRG_764:g.110673C>T
  • LRG_764p1:p.Arg145Cys
  • LRG_764p2:p.Arg133Cys
  • NC_000023.10:g.153296882G>A
  • NG_007107.2:g.110697C>T
  • NM_001110792.1:c.433C>T
  • NM_001386139.1:c.-164C>T
  • NM_004992.3:c.397C>T
  • P51608:p.Arg133Cys
  • p.(Arg133Cys)
  • p.Arg145Cys
Protein change:
R133C; ARG133CYS
Links:
UniProtKB: P51608#VAR_010273; OMIM: 300005.0001; dbSNP: rs28934904
NCBI 1000 Genomes Browser:
rs28934904
Molecular consequence:
  • NM_001386137.1:c.-164C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386138.1:c.-164C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386139.1:c.-164C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001110792.2:c.433C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316337.2:c.118C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369391.2:c.118C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369392.2:c.118C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369393.2:c.118C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369394.2:c.118C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.4:c.397C>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Unknown function

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
SCV000222428RettBASE
no assertion criteria provided
Pathogenic
(Dec 5, 2013) 		unknowncuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1Yescuration

Citations

PubMed

Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome.

Inui K, Akagi M, Ono J, Tsukamoto H, Shimono K, Mano T, Imai K, Yamada M, Muramatsu T, Sakai N, Okada S.

Brain Dev. 2001 Jul;23(4):212-5.

PubMed [citation]
PMID:
11376998

Details of each submission

From RettBASE, SCV000222428.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedYescuration PubMed (1)

Description

"Not Rett synd. - Sporadic mental retardation"

PubMed [ID: 11376998]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1Bloodnot provided1not providednot providednot provided

Last Updated: Oct 26, 2024