NM_018238.4(AGK):c.390G>A (p.Glu130=) AND Sengers syndrome

Clinical significance:Likely pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001268954.1

Allele description [Variation Report for NM_018238.4(AGK):c.390G>A (p.Glu130=)]

NM_018238.4(AGK):c.390G>A (p.Glu130=)

Gene:
AGK:acylglycerol kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q34
Genomic location:
Preferred name:
NM_018238.4(AGK):c.390G>A (p.Glu130=)
HGVS:
  • NC_000007.14:g.141611287G>A
  • NG_032079.1:g.65010G>A
  • NM_001364948.3:c.390G>A
  • NM_018238.4:c.390G>AMANE SELECT
  • NP_001351877.1:p.Glu130=
  • NP_060708.1:p.Glu130=
  • LRG_1251t1:c.390G>A
  • LRG_1251:g.65010G>A
  • LRG_1251p1:p.Glu130=
  • NC_000007.13:g.141311087G>A
Molecular consequence:
  • NM_001364948.3:c.390G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_018238.4:c.390G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Sengers syndrome
Synonyms:
Cardiomyopathy and cataract; MITOCHONDRIAL DNA DEPLETION SYNDROME 10 (CARDIOMYOPATHIC TYPE)
Identifiers:
MONDO: MONDO:0008922; MedGen: C1859317; Orphanet: 1369; OMIM: 212350

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001448201Department of Heart Center,Qingdao Women and Children's Hospitalno assertion criteria providedLikely pathogenicinheritedcuration

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Mutation in the AGK gene in two siblings with unusual Sengers syndrome.

Allali S, Dorboz I, Samaan S, Slama A, Rambaud C, Boespflug-Tanguy O, Sarret C.

Metab Brain Dis. 2017 Dec;32(6):2149-2154. doi: 10.1007/s11011-017-0101-6. Epub 2017 Sep 3.

PubMed [citation]
PMID:
28868593

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.

Haghighi A, Haack TB, Atiq M, Mottaghi H, Haghighi-Kakhki H, Bashir RA, Ahting U, Feichtinger RG, Mayr JA, Rötig A, Lebre AS, Klopstock T, Dworschak A, Pulido N, Saeed MA, Saleh-Gohari N, Holzerova E, Chinnery PF, Taylor RW, Prokisch H.

Orphanet J Rare Dis. 2014 Aug 20;9:119. doi: 10.1186/s13023-014-0119-3. Review.

PubMed [citation]
PMID:
25208612
PMCID:
PMC4167147
See all PubMed Citations (3)

Details of each submission

From Department of Heart Center,Qingdao Women and Children's Hospital, SCV001448201.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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