NM_031844.3(HNRNPU):c.2471_2472delinsGA (p.Tyr824Ter) AND Developmental and epileptic encephalopathy, 54

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 1, 2013
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:: RCV000445557.2

Allele description [Variation Report for NM_031844.3(HNRNPU):c.2471_2472delinsGA (p.Tyr824Ter)]

NM_031844.3(HNRNPU):c.2471_2472delinsGA (p.Tyr824Ter)

Gene:

HNRNPU:heterogeneous nuclear ribonucleoprotein U [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

1q44

Genomic location:

Preferred name:

NM_031844.3(HNRNPU):c.2471_2472delinsGA (p.Tyr824Ter)

HGVS:

NC_000001.11:g.244854456_244854457delinsTC
NG_042184.1:g.15069_15070delinsGA
NM_004501.3:c.2414_2415delinsGA
NM_031844.3:c.2471_2472delinsGAMANE SELECT
NP_004492.2:p.Tyr805Ter
NP_114032.2:p.Tyr824Ter
NC_000001.10:g.245017758_245017759delinsTC

Note:

NCBI staff reviewed the sequence information reported in PubMed 23708187 Fig. S4 to determine the location of this allele on the current reference sequence.

Protein change:

Y805*; TYR805TER

Links:

OMIM: 602869.0001; dbSNP: rs1057524914

NCBI 1000 Genomes Browser:

rs1057524914

Molecular consequence:

NM_004501.3:c.2414_2415delinsGA - nonsense - [Sequence Ontology: SO:0001587]
NM_031844.3:c.2471_2472delinsGA - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000537134	OMIM	no assertion criteria provided	Pathogenic (Jul 1, 2013)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000537134

OMIM

no assertion criteria provided

Pathogenic
(Jul 1, 2013)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, et al.

Nat Genet. 2013 Jul;45(7):825-30. doi: 10.1038/ng.2646. Epub 2013 May 26.

PubMed [citation]

PMID:: 23708187
PMCID:: PMC3704157

Details of each submission

From OMIM, SCV000537134.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a 33-year-old man (patient T162) with developmental and epileptic encephalopathy-54 (DEE54; 617391), Carvill et al. (2013) identified a heterozygous mutation in the HNRNPU gene, resulting in an tyr805-to-ter (Y805X) substitution. The mutation was not present in the mother; DNA from the father was unavailable. Functional studies of the variant and studies of patient cells were not performed. The patient was part of a larger cohort of 500 patients with epileptic encephalopathies who underwent targeted sequencing of candidate genes. He had delayed development from early infancy and onset of various types of seizures at 2 years of age.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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