NM_031844.3(HNRNPU):c.401_402del (p.Asp134fs) AND Developmental and epileptic encephalopathy, 54

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 1, 2018
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:: RCV000585859.1

Allele description [Variation Report for NM_031844.3(HNRNPU):c.401_402del (p.Asp134fs)]

NM_031844.3(HNRNPU):c.401_402del (p.Asp134fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

1q44

Genomic location:

Preferred name:

NM_031844.3(HNRNPU):c.401_402del (p.Asp134fs)

HGVS:

NC_000001.11:g.244863906_244863907del
NG_042184.1:g.5619_5620del
NM_004501.3:c.401_402del
NM_031844.3:c.401_402delMANE SELECT
NP_004492.2:p.Asp134fs
NP_114032.2:p.Asp134fs
NC_000001.10:g.245027208_245027209del
NM_004501.3:c.401_402delAC

Protein change:

D134fs

Links:

dbSNP: rs1553283916

NCBI 1000 Genomes Browser:

rs1553283916

Molecular consequence:

NM_004501.3:c.401_402del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_031844.3:c.401_402del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

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

Recent activity

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2-isopropylmalate synthase [Metabacillus litoralis]
2-isopropylmalate synthase [Metabacillus litoralis]
gi|2166723730|gnl|PRJNA723220|KDJ21 60|gb|UHA62300.1|

Protein
LOC115147443 [Salmo trutta]
LOC115147443 [Salmo trutta]
Gene ID:115147443

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000693772	NeuroMeGen, Hospital Clinico Santiago de Compostela	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 1, 2018)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000693772

NeuroMeGen, Hospital Clinico Santiago de Compostela

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 1, 2018)

de novo

clinical testing

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	de novo	yes	1	not provided	not provided	1	not provided	clinical 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 NeuroMeGen, Hospital Clinico Santiago de Compostela, SCV000693772.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Apr 23, 2022

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