NM_002495.4(NDUFS4):c.208G>T (p.Glu70Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 28, 2022
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:: RCV003038410.3

Allele description [Variation Report for NM_002495.4(NDUFS4):c.208G>T (p.Glu70Ter)]

NM_002495.4(NDUFS4):c.208G>T (p.Glu70Ter)

Gene:

NDUFS4:NADH:ubiquinone oxidoreductase subunit S4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q11.2

Genomic location:

Preferred name:

NM_002495.4(NDUFS4):c.208G>T (p.Glu70Ter)

HGVS:

NC_000005.10:g.53646263G>T
NG_008200.1:g.90629G>T
NM_001318051.2:c.208G>T
NM_002495.4:c.208G>TMANE SELECT
NP_001304980.1:p.Glu70Ter
NP_002486.1:p.Glu70Ter
NC_000005.9:g.52942093G>T
NR_134473.2:n.404G>T
NR_134474.2:n.321G>T
NR_134475.2:n.356G>T

Protein change:

E70*

Molecular consequence:

NR_134473.2:n.404G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_134474.2:n.321G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_134475.2:n.356G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001318051.2:c.208G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_002495.4:c.208G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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LAMS (0)
Protein Family Models
Acute alcohol consumption effect on whole blood (control group): time course
Acute alcohol consumption effect on whole blood (control group): time course
Accession: GDS6177

GEO DataSets
Related DataSets for GEO Profiles (Select 132631931) (1)
GEO DataSets
uncharacterized transporter C405.03c-like [Cucurbita pepo subsp. pepo]
uncharacterized transporter C405.03c-like [Cucurbita pepo subsp. pepo]
gi|1333115279|ref|XP_023531838.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003327924	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 28, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 10944442, 16213125, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003327924

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 28, 2022)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene.

Budde SM, van den Heuvel LP, Janssen AJ, Smeets RJ, Buskens CA, DeMeirleir L, Van Coster R, Baethmann M, Voit T, Trijbels JM, Smeitink JA.

Biochem Biophys Res Commun. 2000 Aug 18;275(1):63-8.

PubMed [citation]

PMID:: 10944442

Decreased agonist-stimulated mitochondrial ATP production caused by a pathological reduction in endoplasmic reticulum calcium content in human complex I deficiency.

Visch HJ, Koopman WJ, Leusink A, van Emst-de Vries SE, van den Heuvel LW, Willems PH, Smeitink JA.

Biochim Biophys Acta. 2006 Jan;1762(1):115-23. Epub 2005 Sep 16.

PubMed [citation]

PMID:: 16213125

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003327924.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Glu70*) in the NDUFS4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NDUFS4 are known to be pathogenic (PMID: 10944442, 16213125). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with NDUFS4-related conditions. This variant is not present in population databases (gnomAD no frequency).

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

Last Updated: Sep 29, 2024

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