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NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) 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:
RCV000169938.12

Allele description [Variation Report for NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)]

NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)

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.799C>T (p.Arg267Ter)
Other names:
p.R255*:CGA>TGA; NM_001110792.2(MECP2):c.799C>T; p.Arg267Ter
HGVS:
  • NC_000023.11:g.154031065G>A
  • NG_007107.3:g.111039C>T
  • NM_001110792.2:c.799C>TMANE SELECT
  • NM_001316337.2:c.484C>T
  • NM_001369391.2:c.484C>T
  • NM_001369392.2:c.484C>T
  • NM_001369393.2:c.484C>T
  • NM_001369394.2:c.484C>T
  • NM_001386137.1:c.94C>T
  • NM_001386138.1:c.94C>T
  • NM_001386139.1:c.94C>T
  • NM_004992.4:c.763C>T
  • NP_001104262.1:p.Arg267Ter
  • NP_001303266.1:p.Arg162Ter
  • NP_001356320.1:p.Arg162Ter
  • NP_001356321.1:p.Arg162Ter
  • NP_001356322.1:p.Arg162Ter
  • NP_001356323.1:p.Arg162Ter
  • NP_001373066.1:p.Arg32Ter
  • NP_001373067.1:p.Arg32Ter
  • NP_001373068.1:p.Arg32Ter
  • NP_004983.1:p.Arg255Ter
  • NP_004983.1:p.Arg255Ter
  • LRG_764t1:c.799C>T
  • LRG_764t2:c.763C>T
  • AJ132917.1:c.763C>T
  • LRG_764:g.111039C>T
  • LRG_764p1:p.Arg267Ter
  • LRG_764p2:p.Arg255Ter
  • NC_000023.10:g.153296516G>A
  • NG_007107.2:g.111063C>T
  • NM_001110792.1:c.799C>T
  • NM_004992.3:c.763C>T
  • NM_004992.4:c.763C>T
  • NP_004983.1:p.Arg255*
  • p.(Arg255*)
  • p.Arg255X
Protein change:
R162*; ARG255TER
Links:
OMIM: 300005.0021; dbSNP: rs61749721
NCBI 1000 Genomes Browser:
rs61749721
Molecular consequence:
  • NM_001110792.2:c.799C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001316337.2:c.484C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369391.2:c.484C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369392.2:c.484C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369393.2:c.484C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369394.2:c.484C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001386137.1:c.94C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001386138.1:c.94C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001386139.1:c.94C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004992.4:c.763C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000188235RettBASE
no assertion criteria provided
Pathogenic
(Dec 5, 2013) 		de novocuration

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1Nocuration

Details of each submission

From RettBASE, SCV000188235.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedNocurationnot provided

Description

Not Rett synd. - intellectual disability

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not statednot provided1not providednot providednot provided

Last Updated: Jul 15, 2024