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NM_001110792.2(MECP2):c.251_252insT (p.Ala85fs) AND Rett syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 21, 2008
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:
RCV000133033.2

Allele description [Variation Report for NM_001110792.2(MECP2):c.251_252insT (p.Ala85fs)]

NM_001110792.2(MECP2):c.251_252insT (p.Ala85fs)

Gene:
MECP2:methyl-CpG binding protein 2 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110792.2(MECP2):c.251_252insT (p.Ala85fs)
HGVS:
  • NC_000023.11:g.154032368_154032369insA
  • NG_007107.2:g.109759_109760insT
  • NG_007107.3:g.109735_109736insT
  • NM_001110792.2:c.251_252insTMANE SELECT
  • NM_001316337.2:c.-65_-64insT
  • NM_001369391.2:c.-65_-64insT
  • NM_001369392.2:c.-65_-64insT
  • NM_001369393.2:c.-65_-64insT
  • NM_001369394.2:c.-65_-64insT
  • NM_001386137.1:c.-346_-345insT
  • NM_001386138.1:c.-346_-345insT
  • NM_001386139.1:c.-346_-345insT
  • NM_004992.4:c.215_216insT
  • NP_001104262.1:p.Ala85fs
  • NP_004983.1:p.Ala73fs
  • NP_004983.1:p.Ala73fs
  • LRG_764t1:c.251_252insT
  • LRG_764t2:c.215_216insT
  • AJ132917.1:c.215_216insT
  • LRG_764:g.109735_109736insT
  • LRG_764p1:p.Ala85fs
  • LRG_764p2:p.Ala73fs
  • NC_000023.10:g.153297819_153297820insA
  • NM_004992.3:c.215_216insT
Protein change:
A73fs
Links:
dbSNP: rs1557137871
NCBI 1000 Genomes Browser:
rs1557137871
Molecular consequence:
  • NM_001316337.2:c.-65_-64insT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369391.2:c.-65_-64insT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369392.2:c.-65_-64insT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369393.2:c.-65_-64insT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369394.2:c.-65_-64insT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386137.1:c.-346_-345insT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386138.1:c.-346_-345insT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386139.1:c.-346_-345insT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001110792.2:c.251_252insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004992.4:c.215_216insT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Rett syndrome (RTT)
Synonyms:
Autism, dementia, ataxia, and loss of purposeful hand use; MECP2-Related Disorders; Rett's disorder
Identifiers:
MONDO: MONDO:0010726; MedGen: C0035372; Orphanet: 3095; Orphanet: 778; OMIM: 312750

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000188021RettBASE
no assertion criteria provided
Pathogenic
(Jan 21, 2008) 		unknowncuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedcuration

Citations

PubMed

Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.

Philippe C, Villard L, De Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T.

Eur J Med Genet. 2006 Jan-Feb;49(1):9-18.

PubMed [citation]
PMID:
16473305

Details of each submission

From RettBASE, SCV000188021.2

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

Description

"Rett syndrome - not certain"

PubMed [ID: 16473305]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1bloodnot provided1not providednot providednot provided

Last Updated: Sep 17, 2022