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NM_018451.5(CENPJ):c.1132C>T (p.Arg378Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 26, 2019
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:
RCV001004049.3

Allele description [Variation Report for NM_018451.5(CENPJ):c.1132C>T (p.Arg378Ter)]

NM_018451.5(CENPJ):c.1132C>T (p.Arg378Ter)

Gene:
CENPJ:centromere protein J [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.13
Genomic location:
Preferred name:
NM_018451.5(CENPJ):c.1132C>T (p.Arg378Ter)
HGVS:
  • NC_000013.11:g.24906906G>A
  • NG_009165.2:g.21042C>T
  • NM_018451.5:c.1132C>TMANE SELECT
  • NP_060921.3:p.Arg378Ter
  • NC_000013.10:g.25481044G>A
  • NM_018451.3:c.1132C>T
  • NR_047594.2:n.1299C>T
  • NR_047595.2:n.1299C>T
Protein change:
R378*
Links:
dbSNP: rs201111299
NCBI 1000 Genomes Browser:
rs201111299
Molecular consequence:
  • NR_047594.2:n.1299C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_047595.2:n.1299C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_018451.5:c.1132C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Intellectual disability, moderate
Synonyms:
Moderae intellectual disability
Identifiers:
MedGen: C0026351; Human Phenotype Ontology: HP:0002342
Name:
Primary microcephaly
Synonyms:
Congenital microcephaly
Identifiers:
MedGen: C2677180; Human Phenotype Ontology: HP:0011451
Name:
Perisylvian polymicrogyria
Identifiers:
MedGen: C3279675; Human Phenotype Ontology: HP:0012650
Name:
Lissencephaly type 3
Identifiers:
MONDO: MONDO:0015148; MedGen: C1969029

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000986656Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 26, 2019) 		paternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron, SCV000986656.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

Variant found in trans with the pathogenic variant NM_018451.5:c.289dupA on CENPJ gene

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

Last Updated: Sep 29, 2024