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NM_017819.4(TRMT10C):c.814A>G (p.Thr272Ala) AND Combined oxidative phosphorylation defect type 30

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 10, 2019
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:
RCV000225275.4

Allele description [Variation Report for NM_017819.4(TRMT10C):c.814A>G (p.Thr272Ala)]

NM_017819.4(TRMT10C):c.814A>G (p.Thr272Ala)

Gene:
TRMT10C:tRNA methyltransferase 10C, mitochondrial RNase P subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q12.3
Genomic location:
Preferred name:
NM_017819.4(TRMT10C):c.814A>G (p.Thr272Ala)
HGVS:
  • NC_000003.12:g.101565595A>G
  • NG_050898.1:g.8760A>G
  • NM_017819.4:c.814A>GMANE SELECT
  • NP_060289.2:p.Thr272Ala
  • NC_000003.11:g.101284439A>G
  • NM_017819.3:c.814A>G
  • Q7L0Y3:p.Thr272Ala
Protein change:
T272A; THR272ALA
Links:
UniProtKB: Q7L0Y3#VAR_076994; OMIM: 615423.0002; dbSNP: rs875989831
NCBI 1000 Genomes Browser:
rs875989831
Molecular consequence:
  • NM_017819.4:c.814A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Combined oxidative phosphorylation defect type 30
Synonyms:
Combined oxidative phosphorylation deficiency 30
Identifiers:
MONDO: MONDO:0014856; MedGen: C5567605; OMIM: 616974

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000282034OMIM
no assertion criteria provided
Pathogenic
(Sep 10, 2019) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.

Metodiev MD, Thompson K, Alston CL, Morris AAM, He L, Assouline Z, Rio M, Bahi-Buisson N, Pyle A, Griffin H, Siira S, Filipovska A, Munnich A, Chinnery PF, McFarland R, Rötig A, Taylor RW.

Am J Hum Genet. 2016 May 5;98(5):993-1000. doi: 10.1016/j.ajhg.2016.03.010. Epub 2016 Apr 28. Erratum in: Am J Hum Genet. 2016 Jul 7;99(1):246. doi: 10.1016/j.ajhg.2016.06.013.

PubMed [citation]
PMID:
27132592
PMCID:
PMC4863561

Details of each submission

From OMIM, SCV000282034.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the c.814A-G transition (SCV000264780.0) in the TRMT10C gene, resulting in a thr272-to-ala (T272A) substitution, that was found in compound heterozygous state in a male infant with combined oxidative phosphorylation deficiency-30 (COXPD30; 616974) by Metodiev et al. (2016), see 615423.0001.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 9, 2023