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NM_001110792.2(MECP2):c.1496G>T (p.Ter499Leu) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000133019.1

Allele description [Variation Report for NM_001110792.2(MECP2):c.1496G>T (p.Ter499Leu)]

NM_001110792.2(MECP2):c.1496G>T (p.Ter499Leu)

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.1496G>T (p.Ter499Leu)
Other names:
*487L; *499L; *394L; NM_001110792.2(MECP2):c.1496G>T; p.Ter499Leu
HGVS:
  • NC_000023.11:g.154030368C>A
  • NG_007107.3:g.111736G>T
  • NM_001110792.2:c.1496G>TMANE SELECT
  • NM_001316337.2:c.1181G>T
  • NM_001369391.2:c.1181G>T
  • NM_001369392.2:c.1181G>T
  • NM_001369393.2:c.1181G>T
  • NM_001369394.2:c.1181G>T
  • NM_001386137.1:c.791G>T
  • NM_001386138.1:c.791G>T
  • NM_001386139.1:c.791G>T
  • NM_004992.4:c.1460G>T
  • NP_001104262.1:p.Ter499Leu
  • NP_001303266.1:p.Ter394Leu
  • NP_001356320.1:p.Ter394Leu
  • NP_001356321.1:p.Ter394Leu
  • NP_001356322.1:p.Ter394Leu
  • NP_001356323.1:p.Ter394Leu
  • NP_001373066.1:p.Ter264Leu
  • NP_001373067.1:p.Ter264Leu
  • NP_001373068.1:p.Ter264Leu
  • NP_004983.1:p.Ter487Leu
  • LRG_764t1:c.1496G>T
  • LRG_764t2:c.1460G>T
  • AJ132917.1:c.1460G>T
  • LRG_764:g.111736G>T
  • LRG_764p1:p.Ter499Leu
  • LRG_764p2:p.Ter487Leu
  • NC_000023.10:g.153295819C>A
  • NG_007107.2:g.111760G>T
Links:
dbSNP: rs267608399
NCBI 1000 Genomes Browser:
rs267608399
Molecular consequence:
  • NM_001110792.2:c.1496G>T - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001316337.2:c.1181G>T - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001369391.2:c.1181G>T - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001369392.2:c.1181G>T - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001369393.2:c.1181G>T - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001369394.2:c.1181G>T - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001386137.1:c.791G>T - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001386138.1:c.791G>T - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001386139.1:c.791G>T - stop lost - [Sequence Ontology: SO:0001578]
  • NM_004992.4:c.1460G>T - stop lost - [Sequence Ontology: SO:0001578]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000188006RettBASE
no classification provided
not providednot providednot provided

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From RettBASE, SCV000188006.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024