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NM_016011.4(MECR):c.772C>T (p.Arg258Trp) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 1, 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:
RCV000755160.1

Allele description [Variation Report for NM_016011.4(MECR):c.772C>T (p.Arg258Trp)]

NM_016011.4(MECR):c.772C>T (p.Arg258Trp)

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_016011.4(MECR):c.772C>T (p.Arg258Trp)
HGVS:
  • NC_000001.11:g.29200574G>A
  • NG_053058.1:g.35385C>T
  • NM_001024732.4:c.544C>T
  • NM_001349711.2:c.544C>T
  • NM_001349712.2:c.544C>T
  • NM_001349713.2:c.544C>T
  • NM_001349714.2:c.544C>T
  • NM_001349715.2:c.877C>T
  • NM_001349716.2:c.856C>T
  • NM_001349717.2:c.622C>T
  • NM_016011.5:c.772C>TMANE SELECT
  • NP_001019903.3:p.Arg182Trp
  • NP_001336640.1:p.Arg182Trp
  • NP_001336641.1:p.Arg182Trp
  • NP_001336642.1:p.Arg182Trp
  • NP_001336643.1:p.Arg182Trp
  • NP_001336644.1:p.Arg293Trp
  • NP_001336645.1:p.Arg286Trp
  • NP_001336646.1:p.Arg208Trp
  • NP_057095.4:p.Arg258Trp
  • NC_000001.10:g.29527086G>A
  • NM_016011.4:c.772C>T
  • NR_146212.2:n.927C>T
  • NR_146213.2:n.800C>T
  • NR_146214.2:n.1053C>T
  • NR_146215.2:n.927C>T
  • NM_016011.3:c.772-C>T
Protein change:
R182W; ARG258TRP
Links:
OMIM: 608205.0005; dbSNP: rs145192716
NCBI 1000 Genomes Browser:
rs145192716
Molecular consequence:
  • NM_001024732.4:c.544C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349711.2:c.544C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349712.2:c.544C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349713.2:c.544C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349714.2:c.544C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349715.2:c.877C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349716.2:c.856C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349717.2:c.622C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016011.5:c.772C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146212.2:n.927C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146213.2:n.800C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146214.2:n.1053C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146215.2:n.927C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Optic atrophy
Identifiers:
MONDO: MONDO:0003608; MedGen: C0029124; Human Phenotype Ontology: HP:0000648
Name:
Childhood Onset Dystonias
Identifiers:
MedGen: C0752202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000882982University of Washington Center for Mendelian Genomics, University of Washington
no assertion criteria provided
Likely pathogenic
(Dec 1, 2016) 		unknownresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes2not providednot providednot providednot providedresearch

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 University of Washington Center for Mendelian Genomics, University of Washington, SCV000882982.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Apr 20, 2024