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NM_031844.3(HNRNPU):c.511C>T (p.Gln171Ter) AND Developmental and epileptic encephalopathy, 54

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 2014
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:
RCV000445561.2

Allele description [Variation Report for NM_031844.3(HNRNPU):c.511C>T (p.Gln171Ter)]

NM_031844.3(HNRNPU):c.511C>T (p.Gln171Ter)

Gene:
HNRNPU:heterogeneous nuclear ribonucleoprotein U [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q44
Genomic location:
Preferred name:
NM_031844.3(HNRNPU):c.511C>T (p.Gln171Ter)
HGVS:
  • NC_000001.11:g.244863797G>A
  • NG_042184.1:g.5729C>T
  • NM_004501.3:c.511C>T
  • NM_031844.3:c.511C>TMANE SELECT
  • NP_004492.2:p.Gln171Ter
  • NP_114032.2:p.Gln171Ter
  • NC_000001.10:g.245027099G>A
  • NM_031844.2:c.511C>T
Protein change:
Q171*; GLN171TER
Links:
OMIM: 602869.0002; dbSNP: rs1057524915
NCBI 1000 Genomes Browser:
rs1057524915
Molecular consequence:
  • NM_004501.3:c.511C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_031844.3:c.511C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Developmental and epileptic encephalopathy, 54
Synonyms:
Epileptic encephalopathy, early infantile, 54
Identifiers:
MONDO: MONDO:0033363; MedGen: C4479319; OMIM: 617391

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000537135OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 2014) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

De novo mutations in moderate or severe intellectual disability.

Hamdan FF, Srour M, Capo-Chichi JM, Daoud H, Nassif C, Patry L, Massicotte C, Ambalavanan A, Spiegelman D, Diallo O, Henrion E, Dionne-Laporte A, Fougerat A, Pshezhetsky AV, Venkateswaran S, Rouleau GA, Michaud JL.

PLoS Genet. 2014 Oct;10(10):e1004772. doi: 10.1371/journal.pgen.1004772.

PubMed [citation]
PMID:
25356899
PMCID:
PMC4214635

Details of each submission

From OMIM, SCV000537135.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 3.5-year-old boy (patient 1464.524) with developmental and epileptic encephalopathy-54 (DEE54; 617391), Hamdan et al. (2014) identified a de novo heterozygous c.511C-T transition (c.511C-T, NM_031844.2) in the HNRNPU gene, resulting in a gln171-to-ter (Q171X) substitution. The mutation was not found in the Exome Variant Server database. The patient was part of a cohort of 41 child-parent trios, in which the child had intellectual disability, who underwent exome sequencing. Clinical details were sparse, but the child was noted to have severe intellectual disability, autistic features, and seizures. He was hypotonic and was unable to speak or walk. He had borderline microcephaly; brain imaging showed enlarged ventricles and myelination delay.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022