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NM_001110792.2(MECP2):c.1474C>T (p.Pro492Ser) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
May 14, 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:
RCV000133007.2

Allele description [Variation Report for NM_001110792.2(MECP2):c.1474C>T (p.Pro492Ser)]

NM_001110792.2(MECP2):c.1474C>T (p.Pro492Ser)

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.1474C>T (p.Pro492Ser)
Other names:
NM_001110792.2(MECP2):c.1474C>T; p.Pro492Ser
HGVS:
  • NC_000023.11:g.154030390G>A
  • NG_007107.3:g.111714C>T
  • NM_001110792.2:c.1474C>TMANE SELECT
  • NM_001316337.2:c.1159C>T
  • NM_001369391.2:c.1159C>T
  • NM_001369392.2:c.1159C>T
  • NM_001369393.2:c.1159C>T
  • NM_001369394.2:c.1159C>T
  • NM_001386137.1:c.769C>T
  • NM_001386138.1:c.769C>T
  • NM_001386139.1:c.769C>T
  • NM_004992.4:c.1438C>T
  • NP_001104262.1:p.Pro492Ser
  • NP_001303266.1:p.Pro387Ser
  • NP_001356320.1:p.Pro387Ser
  • NP_001356321.1:p.Pro387Ser
  • NP_001356322.1:p.Pro387Ser
  • NP_001356323.1:p.Pro387Ser
  • NP_001373066.1:p.Pro257Ser
  • NP_001373067.1:p.Pro257Ser
  • NP_001373068.1:p.Pro257Ser
  • NP_004983.1:p.Pro480Ser
  • NP_004983.1:p.Pro480Ser
  • LRG_764t1:c.1474C>T
  • LRG_764t2:c.1438C>T
  • AJ132917.1:c.1438C>T
  • LRG_764:g.111714C>T
  • LRG_764p1:p.Pro492Ser
  • LRG_764p2:p.Pro480Ser
  • NC_000023.10:g.153295841G>A
  • NG_007107.2:g.111738C>T
  • NM_004992.3:c.1438C>T
  • P51608:p.Pro480Ser
Protein change:
P257S
Links:
UniProtKB: P51608#VAR_018226; dbSNP: rs267608636
NCBI 1000 Genomes Browser:
rs267608636
Molecular consequence:
  • NM_001110792.2:c.1474C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316337.2:c.1159C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369391.2:c.1159C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369392.2:c.1159C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369393.2:c.1159C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369394.2:c.1159C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386137.1:c.769C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386138.1:c.769C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386139.1:c.769C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.4:c.1438C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000187994RettBASE
no assertion criteria provided
Benign
(May 14, 2010) 		maternal, unknowncuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalnot provided1not providednot provided1not providedcuration
not providedunknownnot provided2not providednot provided2Yescuration

Citations

PubMed

Low frequency of MECP2 mutations in mentally retarded males.

Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BB, Nillesen W, Sistermans EA, Brunner HG, Hamel BC, van Bokhoven H.

Eur J Hum Genet. 2002 Aug;10(8):487-90.

PubMed [citation]
PMID:
12111644

Details of each submission

From RettBASE, SCV000187994.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcuration PubMed (1)
2not provided1not providedYescuration PubMed (1)
3not provided1not providedYescuration PubMed (1)

Description

"Not Rett synd. - mental retardation"

PubMed [ID: 12111644]

"Not Rett synd. - unaffected family member"

PubMed [ID: 12111644]

"Not Rett synd. - unaffected family member"

PubMed [ID: 12111644]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalnot provided1not knownnot provided1not providednot providednot provided
2unknownnot provided1NKnot provided1not providednot providednot provided
3unknownnot provided1NKnot provided1not providednot providednot provided

Last Updated: Sep 29, 2024