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NM_001172696.1(TSFM):c.[355G>C];[997C>T] AND Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 29, 2014
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:
RCV000199000.2

Allele description [Variation Report for NM_001172696.1(TSFM):c.[355G>C];[997C>T]]

NM_005726.6(TSFM):c.934C>T (p.Arg312Trp)

Gene:
TSFM:Ts translation elongation factor, mitochondrial [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q14.1
Genomic location:
Preferred name:
NM_005726.6(TSFM):c.934C>T (p.Arg312Trp)
HGVS:
  • NC_000012.12:g.57796539C>T
  • NG_016971.1:g.18795C>T
  • NM_001172695.2:c.*342C>T
  • NM_001172696.2:c.997C>T
  • NM_001172697.2:c.571+3466C>T
  • NM_005726.6:c.934C>TMANE SELECT
  • NP_001166167.1:p.Arg333Trp
  • NP_005717.3:p.Arg312Trp
  • NC_000012.11:g.58190322C>T
  • NM_001172696.1:c.997C>T
  • NM_005726.5:c.934C>T
  • NM_005726.6:c.934C>T
Protein change:
R312W; ARG333TRP
Links:
OMIM: 604723.0001; dbSNP: rs121909485
NCBI 1000 Genomes Browser:
rs121909485
Molecular consequence:
  • NM_001172695.2:c.*342C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001172697.2:c.571+3466C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001172696.2:c.997C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005726.6:c.934C>T - missense variant - [Sequence Ontology: SO:0001583]

NM_005726.6(TSFM):c.355G>C (p.Val119Leu)

Gene:
TSFM:Ts translation elongation factor, mitochondrial [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q14.1
Genomic location:
Preferred name:
NM_005726.6(TSFM):c.355G>C (p.Val119Leu)
HGVS:
  • NC_000012.12:g.57786286G>C
  • NG_016971.1:g.8542G>C
  • NM_001172695.2:c.355G>C
  • NM_001172696.2:c.355G>C
  • NM_001172697.2:c.355G>C
  • NM_005726.6:c.355G>CMANE SELECT
  • NP_001166166.1:p.Val119Leu
  • NP_001166167.1:p.Val119Leu
  • NP_001166168.1:p.Val119Leu
  • NP_005717.3:p.Val119Leu
  • NC_000012.11:g.58180069G>C
  • NM_001172696.1:c.355G>C
Protein change:
V119L
Links:
dbSNP: rs863224936
NCBI 1000 Genomes Browser:
rs863224936
Molecular consequence:
  • NM_001172695.2:c.355G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001172696.2:c.355G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001172697.2:c.355G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005726.6:c.355G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Synonyms:
ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS; Combined oxidative phosphorylation deficiency 3
Identifiers:
MONDO: MONDO:0012512; MedGen: C1864840; Orphanet: 168566; OMIM: 610505

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000255495UCLA Clinical Genomics Center, UCLA - CES
criteria provided, single submitter

(Lee et al. (JAMA. 2014))		Likely pathogenic
(Apr 29, 2014) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Armeniangermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF.

JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604.

PubMed [citation]
PMID:
25326637
PMCID:
PMC4278636

Details of each submission

From UCLA Clinical Genomics Center, UCLA - CES, SCV000255495.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Armeniannot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024