NM_024818.4(UBA5):c.971_972insC (p.Lys324fs) AND Epileptic encephalopathy, early infantile, 44

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 6, 2016
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:: RCV000256096.1

Allele description

NM_024818.4(UBA5):c.971_972insC (p.Lys324fs)

Genes:

NPHP3-ACAD11:NPHP3-ACAD11 readthrough (NMD candidate) [Gene - HGNC]
UBA5:ubiquitin like modifier activating enzyme 5 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

3q22.1

Genomic location:

Preferred name:

NM_024818.4(UBA5):c.971_972insC (p.Lys324fs)

HGVS:

NC_000003.12:g.132675627_132675628insC
NG_052968.1:g.26182_26183insC
NM_001320210.1:c.803_804insC
NM_001321238.1:c.701_702insC
NM_001321239.1:c.635_636insC
NM_024818.4:c.971_972insC
NM_198329.3:c.803_804insC
NP_001307139.1:p.Lys268fs
NP_001308167.1:p.Lys234fs
NP_001308168.1:p.Lys212fs
NP_079094.1:p.Lys324fs
NP_938143.1:p.Lys268fs
NC_000003.11:g.132394471_132394472insC

Protein change:

K212fs

Links:

OMIM: 610552.0007; dbSNP: rs886039758

NCBI 1000 Genomes Browser:

rs886039758

Molecular consequence:

NM_001320210.1:c.803_804insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001321238.1:c.701_702insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001321239.1:c.635_636insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_024818.4:c.971_972insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_198329.3:c.803_804insC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Epileptic encephalopathy, early infantile, 44 (EIEE44)
Identifiers:: MONDO: MONDO:0014933; MedGen: C4310700; OMIM: 617132

Recent activity

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Mycobacteroides chelonae strain 15518 NODE_171_length_1241_cov_1.09695, whole ge...
Mycobacteroides chelonae strain 15518 NODE_171_length_1241_cov_1.09695, whole genome shotgun sequence
gi|1092133188|gb|MLIS01000170.1||gn :MLIS01|NODE_171_length_1241_cov_1.09695

Nucleotide
Uncultured ammonia-oxidizing bacterium clone AS30c42 ammonia monooxygenase (amoA...
Uncultured ammonia-oxidizing bacterium clone AS30c42 ammonia monooxygenase (amoA) gene, partial cds
gi|343796856|gb|HQ168227.1|

Nucleotide
EST409219 potato stolon, Cornell University Solanum tuberosum cDNA clone cSTA28I...
EST409219 potato stolon, Cornell University Solanum tuberosum cDNA clone cSTA28I7, mRNA sequence
gi|9253589|gnl|dbEST|5350450|gb|BE3 .1|

Nucleotide
PTGR2 [Equus caballus]
PTGR2 [Equus caballus]
Gene ID:100050600

Gene
TRNAW-CCA [Anas platyrhynchos]
TRNAW-CCA [Anas platyrhynchos]
Gene ID:110354228

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000322719	OMIM	no assertion criteria provided	Pathogenic (Oct 6, 2016)	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

SCV000322719

OMIM

no assertion criteria provided

Pathogenic
(Oct 6, 2016)

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

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.

Colin E, Daniel J, Ziegler A, Wakim J, Scrivo A, Haack TB, Khiati S, Denommé AS, Amati-Bonneau P, Charif M, Procaccio V, Reynier P, Aleck KA, Botto LD, Herper CL, Kaiser CS, Nabbout R, N'Guyen S, Mora-Lorca JA, Assmann B, Christ S, Meitinger T, et al.

Am J Hum Genet. 2016 Sep 1;99(3):695-703. doi: 10.1016/j.ajhg.2016.06.030. Epub 2016 Aug 18.

PubMed [citation]

PMID:: 27545681
PMCID:: PMC5011045

Details of each submission

From OMIM, SCV000322719.1

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

Description

In a 2.5-year-old American girl (family B) with early infantile epileptic encephalopathy-44 (EIEE44; 617132), Colin et al. (2016) identified compound heterozygous mutations in the UBA5 gene: a 1-bp insertion (c.971_972insC, NM_024818) in exon 10, resulting in a frameshift and premature termination (Lys324AsnfsTer14), and A371T (610552.0001). The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. In vitro functional expression studies showed that the frameshift mutation caused a dramatic reduction in catalytic activity, whereas the A371T mutant retained some residual activity, consistent with it being a hypomorphic allele.

#	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: Aug 20, 2020

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