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NM_005984.5(SLC25A1):c.844C>G (p.Arg282Gly) AND D,L-2-hydroxyglutaric aciduria

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 4, 2013
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:
RCV001801241.9

Allele description [Variation Report for NM_005984.5(SLC25A1):c.844C>G (p.Arg282Gly)]

NM_005984.5(SLC25A1):c.844C>G (p.Arg282Gly)

Gene:
SLC25A1:solute carrier family 25 member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q11.21
Genomic location:
Preferred name:
NM_005984.5(SLC25A1):c.844C>G (p.Arg282Gly)
HGVS:
  • NC_000022.11:g.19176222G>C
  • NG_033863.1:g.7642C>G
  • NM_001256534.2:c.865C>G
  • NM_001287387.2:c.535C>G
  • NM_005984.3:c.844C>G
  • NM_005984.5:c.844C>GMANE SELECT
  • NP_001243463.1:p.Arg289Gly
  • NP_001274316.1:p.Arg179Gly
  • NP_005975.1:p.Arg282Gly
  • NP_005975.1:p.Arg282Gly
  • NC_000022.10:g.19163735G>C
  • NM_005984.4:c.844C>G
  • NR_046298.3:n.768C>G
  • P53007:p.Arg282Gly
Protein change:
R179G; ARG282GLY
Links:
UniProtKB: P53007#VAR_069496; OMIM: 190315.0001; dbSNP: rs431905509
NCBI 1000 Genomes Browser:
rs431905509
Molecular consequence:
  • NM_001256534.2:c.865C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287387.2:c.535C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005984.5:c.844C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046298.3:n.768C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
D,L-2-hydroxyglutaric aciduria (D2L2AD)
Synonyms:
Combined D-2- and L-2-hydroxyglutaric aciduria
Identifiers:
MONDO: MONDO:0014072; MedGen: C5574940; Orphanet: 356978; OMIM: 615182

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000058657OMIM
no assertion criteria provided
Pathogenic
(Apr 4, 2013) 		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

Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.

Nota B, Struys EA, Pop A, Jansen EE, Fernandez Ojeda MR, Kanhai WA, Kranendijk M, van Dooren SJ, Bevova MR, Sistermans EA, Nieuwint AW, Barth M, Ben-Omran T, Hoffmann GF, de Lonlay P, McDonald MT, Meberg A, Muntau AC, Nuoffer JM, Parini R, Read MH, Renneberg A, et al.

Am J Hum Genet. 2013 Apr 4;92(4):627-31. doi: 10.1016/j.ajhg.2013.03.009.

PubMed [citation]
PMID:
23561848
PMCID:
PMC3617390

Details of each submission

From OMIM, SCV000058657.2

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

Description

In a female with combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD; 615182), Nota et al. (2013) identified a homozygous C-to-G transversion at nucleotide 844 in exon 9 of the SLC25A1 gene, resulting in an arg-to-gly substitution at codon 282 (R282G).

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

Last Updated: Nov 3, 2024