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NM_032436.4(CHAMP1):c.1192C>T (p.Arg398Ter) AND intellectual disability with severe speech impairment

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 13, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000190452.1

Allele description [Variation Report for NM_032436.4(CHAMP1):c.1192C>T (p.Arg398Ter)]

NM_032436.4(CHAMP1):c.1192C>T (p.Arg398Ter)

Gene:
CHAMP1:chromosome alignment maintaining phosphoprotein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q34
Genomic location:
Preferred name:
NM_032436.4(CHAMP1):c.1192C>T (p.Arg398Ter)
HGVS:
  • NC_000013.11:g.114325034C>T
  • NG_051829.1:g.15700C>T
  • NM_001164144.3:c.1192C>T
  • NM_001164145.3:c.1192C>T
  • NM_032436.4:c.1192C>TMANE SELECT
  • NP_001157616.1:p.Arg398Ter
  • NP_001157617.1:p.Arg398Ter
  • NP_115812.1:p.Arg398Ter
  • NC_000013.10:g.115090509C>T
  • NM_001164144.1:c.1192C>T
  • NM_032436.2:c.1192C>T
Protein change:
R398*; ARG398TER
Links:
OMIM: 616327.0005; dbSNP: rs797044962
NCBI 1000 Genomes Browser:
rs797044962
Molecular consequence:
  • NM_001164144.3:c.1192C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001164145.3:c.1192C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_032436.4:c.1192C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
intellectual disability with severe speech impairment
Identifiers:
MedGen: CN232368

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000244275Institute of Human Genetics, University Medical Center Hamburg-Eppendorf
criteria provided, single submitter

(Submitter's publication)		Pathogenic
(Aug 13, 2015) 		de novoresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.

Abdollahpour H, Alawi M, Kortüm F, Beckstette M, Seemanova E, Komárek V, Rosenberger G, Kutsche K.

Eur J Hum Genet. 2015 Feb;23(2):256-9. doi: 10.1038/ejhg.2014.73. Epub 2014 Apr 30.

PubMed [citation]
PMID:
24781758
PMCID:
PMC4297901

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

Hempel M, Cremer K, Ockeloen CW, Lichtenbelt KD, Herkert JC, Denecke J, Haack TB, Zink AM, Becker J, Wohlleber E, Johannsen J, Alhaddad B, Pfundt R, Fuchs S, Wieczorek D, Strom TM, van Gassen KL, Kleefstra T, Kubisch C, Engels H, Lessel D.

Am J Hum Genet. 2015 Sep 3;97(3):493-500. doi: 10.1016/j.ajhg.2015.08.003.

PubMed [citation]
PMID:
26340335
PMCID:
PMC4564986

Details of each submission

From Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, SCV000244275.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 9, 2024