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NM_001110792.2(MECP2):c.203_204del (p.Pro68fs) AND Angelman syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 10, 2002
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:
RCV000133026.2

Allele description [Variation Report for NM_001110792.2(MECP2):c.203_204del (p.Pro68fs)]

NM_001110792.2(MECP2):c.203_204del (p.Pro68fs)

Gene:
MECP2:methyl-CpG binding protein 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110792.2(MECP2):c.203_204del (p.Pro68fs)
Other names:
NM_001110792.2(MECP2):c.203_204del; p.Pro68fs
HGVS:
  • NC_000023.11:g.154032417_154032418del
  • NG_007107.3:g.109687_109688del
  • NM_001110792.2:c.203_204delMANE SELECT
  • NM_001316337.2:c.-113_-112del
  • NM_001369391.2:c.-113_-112del
  • NM_001369392.2:c.-113_-112del
  • NM_001369393.2:c.-113_-112del
  • NM_001369394.2:c.-113_-112del
  • NM_001386137.1:c.-394_-393del
  • NM_001386138.1:c.-394_-393del
  • NM_001386139.1:c.-394_-393del
  • NM_004992.4:c.167_168del
  • NP_001104262.1:p.Pro68fs
  • NP_004983.1:p.Pro56fs
  • LRG_764t1:c.203_204del
  • LRG_764t2:c.167_168del
  • AJ132917.1:c.167_168delCC
  • LRG_764:g.109687_109688del
  • LRG_764p1:p.Pro68fs
  • LRG_764p2:p.Pro56fs
  • NC_000023.10:g.153297868_153297869del
  • NG_007107.2:g.109711_109712del
  • NM_004992.3:c.167_168delCC
Note:
NCBI staff reviewed the sequence information reported in PubMed 11022934 to determine the location of this allele on the current reference sequence.
Protein change:
P56fs
Links:
OMIM: 300005.0010; dbSNP: rs267608434
NCBI 1000 Genomes Browser:
rs267608434
Molecular consequence:
  • NM_001316337.2:c.-113_-112del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369391.2:c.-113_-112del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369392.2:c.-113_-112del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369393.2:c.-113_-112del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369394.2:c.-113_-112del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386137.1:c.-394_-393del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386138.1:c.-394_-393del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386139.1:c.-394_-393del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001110792.2:c.203_204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004992.4:c.167_168del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Angelman syndrome (AS)
Synonyms:
HAPPY PUPPET SYNDROME; Happy puppet syndrome (formerly)
Identifiers:
MONDO: MONDO:0007113; MedGen: C0162635; Orphanet: 72; OMIM: 105830

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000188013RettBASE
no assertion criteria provided
Pathogenic
(Apr 10, 2002) 		de novocuration

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes2not providednot provided2not providedcuration

Citations

PubMed

Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males.

Clayton-Smith J, Watson P, Ramsden S, Black GC.

Lancet. 2000 Sep 2;356(9232):830-2.

PubMed [citation]
PMID:
11022934

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein.

Watson P, Black G, Ramsden S, Barrow M, Super M, Kerr B, Clayton-Smith J.

J Med Genet. 2001 Apr;38(4):224-8.

PubMed [citation]
PMID:
11283202
PMCID:
PMC1734853

Details of each submission

From RettBASE, SCV000188013.2

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

Description

"Not Rett synd. - Angelman syndrome"

PubMed [ID: 11022934]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not providednot provided1not providednot providednot provided
2de novoyes1Bloodnot provided1not providednot providednot provided

Last Updated: Feb 28, 2024