NM_016011.5(MECR):c.854A>G (p.Tyr285Cys) AND Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 8, 2024
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:: RCV000415576.3

Allele description [Variation Report for NM_016011.5(MECR):c.854A>G (p.Tyr285Cys)]

NM_016011.5(MECR):c.854A>G (p.Tyr285Cys)

Gene:

MECR:mitochondrial trans-2-enoyl-CoA reductase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p35.3

Genomic location:

Preferred name:

NM_016011.5(MECR):c.854A>G (p.Tyr285Cys)

HGVS:

NC_000001.11:g.29196235T>C
NG_053058.1:g.39724A>G
NM_001024732.4:c.626A>G
NM_001349711.2:c.626A>G
NM_001349712.2:c.626A>G
NM_001349713.2:c.626A>G
NM_001349714.2:c.626A>G
NM_001349715.2:c.959A>G
NM_001349716.2:c.938A>G
NM_001349717.2:c.704A>G
NM_016011.5:c.854A>GMANE SELECT
NP_001019903.3:p.Tyr209Cys
NP_001336640.1:p.Tyr209Cys
NP_001336641.1:p.Tyr209Cys
NP_001336642.1:p.Tyr209Cys
NP_001336643.1:p.Tyr209Cys
NP_001336644.1:p.Tyr320Cys
NP_001336645.1:p.Tyr313Cys
NP_001336646.1:p.Tyr235Cys
NP_057095.4:p.Tyr285Cys
NC_000001.10:g.29522747T>C
NM_016011.3:c.854A>G
NR_146212.2:n.1115A>G
NR_146213.2:n.882A>G
NR_146214.2:n.1135A>G
NR_146215.2:n.1009A>G

Protein change:

Y209C; TYR285CYS

Links:

OMIM: 608205.0004; dbSNP: rs759218713

NCBI 1000 Genomes Browser:

rs759218713

Molecular consequence:

NM_001024732.4:c.626A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001349711.2:c.626A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001349712.2:c.626A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001349713.2:c.626A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001349714.2:c.626A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001349715.2:c.959A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001349716.2:c.938A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001349717.2:c.704A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_016011.5:c.854A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_146212.2:n.1115A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146213.2:n.882A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146214.2:n.1135A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146215.2:n.1009A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (DYTOABG)
Synonyms:: DYSTONIA 29, CHILDHOOD-ONSET
Identifiers:: MONDO: MONDO:0015003; MedGen: C4310634; OMIM: 617282

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000493967	OMIM	no assertion criteria provided	Pathogenic (Jan 8, 2024)	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

SCV000493967

OMIM

no assertion criteria provided

Pathogenic
(Jan 8, 2024)

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

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.

Heimer G, Kerätär JM, Riley LG, Balasubramaniam S, Eyal E, Pietikäinen LP, Hiltunen JK, Marek-Yagel D, Hamada J, Gregory A, Rogers C, Hogarth P, Nance MA, Shalva N, Veber A, Tzadok M, Nissenkorn A, Tonduti D, Renaldo F; University of Washington Center for Mendelian Genomics., Kraoua I, Panteghini C, et al.

Am J Hum Genet. 2016 Dec 1;99(6):1229-1244. doi: 10.1016/j.ajhg.2016.09.021. Epub 2016 Nov 3.

PubMed [citation]

PMID:: 27817865
PMCID:: PMC5142118

Details of each submission

From OMIM, SCV000493967.3

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

Description

In a 7-year-old girl of Tunisian origin (family D) with childhood-onset dystonia with optic atrophy and basal ganglia abnormalities (DYTOABG; 617282), Heimer et al. (2016) identified a homozygous c.854A-G transition (c.854A-G, NM_016011.3) in the MECR gene, resulting in a tyr285-to-cys (Y285C) substitution at a conserved residue in the cofactor-binding domain. The mutation was found by Sanger sequencing and segregated with the disorder. The c.854A-G mutation was found in 1 of 120,182 alleles in the ExAC database and was not found in 256 alleles in the Ashkenazi Genome Project database. The residue affected was the same as a nonsense mutation identified in another patient with the disorder (Y285X; 608205.0002).

#	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: Jan 26, 2024

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