NM_032380.5(GFM2):c.1728T>A (p.Asp576Glu) AND Combined oxidative phosphorylation deficiency 39

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 13, 2012
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:: RCV000049273.12

Allele description [Variation Report for NM_032380.5(GFM2):c.1728T>A (p.Asp576Glu)]

NM_032380.5(GFM2):c.1728T>A (p.Asp576Glu)

Gene:

GFM2:GTP dependent ribosome recycling factor mitochondrial 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q13.3

Genomic location:

Preferred name:

NM_032380.5(GFM2):c.1728T>A (p.Asp576Glu)

Other names:

p.D576E:GAT>GAA

HGVS:

NC_000005.10:g.74726125A>T
NG_011531.1:g.46093T>A
NM_001281302.2:c.1824T>A
NM_032380.5:c.1728T>AMANE SELECT
NM_170691.3:c.1587T>A
NP_001268231.1:p.Asp608Glu
NP_115756.2:p.Asp576Glu
NP_733792.1:p.Asp529Glu
NC_000005.9:g.74021950A>T
NM_032380.3:c.1728T>A
NM_032380.4:c.1728T>A
NM_170681.1:c.*10639T>A
NR_104006.2:n.1793T>A

Protein change:

D529E; ASP576GLU

Links:

OMIM: 606544.0001; dbSNP: rs140077535

NCBI 1000 Genomes Browser:

rs140077535

Molecular consequence:

NM_001281302.2:c.1824T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_032380.5:c.1728T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_170691.3:c.1587T>A - missense variant - [Sequence Ontology: SO:0001583]
NR_104006.2:n.1793T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Combined oxidative phosphorylation deficiency 39
Identifiers:: MONDO: MONDO:0032726; MedGen: C5193075; OMIM: 618397

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000077530	OMIM	no assertion criteria provided	Pathogenic (Jun 13, 2012)	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

SCV000077530

OMIM

no assertion criteria provided

Pathogenic
(Jun 13, 2012)

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

Exome sequencing can improve diagnosis and alter patient management.

Dixon-Salazar TJ, Silhavy JL, Udpa N, Schroth J, Bielas S, Schaffer AE, Olvera J, Bafna V, Zaki MS, Abdel-Salam GH, Mansour LA, Selim L, Abdel-Hadi S, Marzouki N, Ben-Omran T, Al-Saana NA, Sonmez FM, Celep F, Azam M, Hill KJ, Collazo A, Fenstermaker AG, et al.

Sci Transl Med. 2012 Jun 13;4(138):138ra78. doi: 10.1126/scitranslmed.3003544.

PubMed [citation]

PMID:: 22700954
PMCID:: PMC4442637

Details of each submission

From OMIM, SCV000077530.3

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

Description

In 2 sibs, born of consanguineous parents, with a neurodevelopmental disorder consistent with combined oxidative phosphorylation deficiency (COXPD39; 618397), Dixon-Salazar et al. (2012) identified a homozygous c.2032T-A transversion in the GFM2 gene, which would result in an asp576-to-glu (D576E) substitution. The variant occurred at a conserved predicted splice site at the acceptor for exon 17 and was predicted to destroy the function at this acceptor site. The mutation, which was identified by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not found in 200 controls. The mutation occurred at a highly conserved residue and was predicted to damage the protein, but functional studies were not performed.

#	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: Oct 26, 2024

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