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NM_001110792.2(MECP2):c.1472C>T (p.Thr491Met) AND not specified

Germline classification:
Benign (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:
RCV000133006.2

Allele description [Variation Report for NM_001110792.2(MECP2):c.1472C>T (p.Thr491Met)]

NM_001110792.2(MECP2):c.1472C>T (p.Thr491Met)

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.1472C>T (p.Thr491Met)
Other names:
NM_001110792.2(MECP2):c.1472C>T; p.Thr491Met
HGVS:
  • NC_000023.11:g.154030392G>A
  • NG_007107.3:g.111712C>T
  • NM_001110792.2:c.1472C>TMANE SELECT
  • NM_001316337.2:c.1157C>T
  • NM_001369391.2:c.1157C>T
  • NM_001369392.2:c.1157C>T
  • NM_001369393.2:c.1157C>T
  • NM_001369394.2:c.1157C>T
  • NM_001386137.1:c.767C>T
  • NM_001386138.1:c.767C>T
  • NM_001386139.1:c.767C>T
  • NM_004992.4:c.1436C>T
  • NP_001104262.1:p.Thr491Met
  • NP_001303266.1:p.Thr386Met
  • NP_001356320.1:p.Thr386Met
  • NP_001356321.1:p.Thr386Met
  • NP_001356322.1:p.Thr386Met
  • NP_001356323.1:p.Thr386Met
  • NP_001373066.1:p.Thr256Met
  • NP_001373067.1:p.Thr256Met
  • NP_001373068.1:p.Thr256Met
  • NP_004983.1:p.Thr479Met
  • NP_004983.1:p.Thr479Met
  • LRG_764t1:c.1472C>T
  • LRG_764t2:c.1436C>T
  • AJ132917.1:c.1436C>T
  • LRG_764:g.111712C>T
  • LRG_764p1:p.Thr491Met
  • LRG_764p2:p.Thr479Met
  • NC_000023.10:g.153295843G>A
  • NG_007107.2:g.111736C>T
  • NM_004992.3:c.1436C>T
Protein change:
T256M
Links:
dbSNP: rs267608635
NCBI 1000 Genomes Browser:
rs267608635
Molecular consequence:
  • NM_001110792.2:c.1472C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316337.2:c.1157C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369391.2:c.1157C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369392.2:c.1157C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369393.2:c.1157C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369394.2:c.1157C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386137.1:c.767C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386138.1:c.767C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386139.1:c.767C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.4:c.1436C>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
SCV000187993RettBASE
no assertion criteria provided
Benign
(Mar 10, 2010) 		unknown, paternalcuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnot provided2not providednot provided2not providedcuration
not providedpaternalnot provided1not providednot provided1not providedcuration

Citations

PubMed

Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms.

Fukuda T, Yamashita Y, Nagamitsu S, Miyamoto K, Jin JJ, Ohmori I, Ohtsuka Y, Kuwajima K, Endo S, Iwai T, Yamagata H, Tabara Y, Miki T, Matsuishi T, Kondo I.

Brain Dev. 2005 Apr;27(3):211-7.

PubMed [citation]
PMID:
15737703

Details of each submission

From RettBASE, SCV000187993.2

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

Description

"Not Rett synd. - non-Rett syndrome control"

PubMed [ID: 15737703]

"Not Rett synd. - unaffected family member"

PubMed [ID: 15737703]

"Rett syndrome - NK"

PubMed [ID: 15737703]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot provided1bloodnot provided1not providednot providednot provided
2unknownnot provided1bloodnot provided1not providednot providednot provided
3paternalnot provided1bloodnot provided1not providednot providednot provided

Last Updated: Oct 28, 2023