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

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Nov 20, 2020)
Accession:
VCV000987519.1
Variation ID:
987519
Description:
single nucleotide variant
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NM_018238.4(AGK):c.390G>A (p.Glu130=)

Allele ID
975666
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q34
Genomic location
7: 141611287 (GRCh38) GRCh38 UCSC
7: 141311087 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1251:g.65010G>A
LRG_1251t1:c.390G>A LRG_1251p1:p.Glu130=
NC_000007.13:g.141311087G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:141611286:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided - RCV001268954.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
AGK - - GRCh38
GRCh38
GRCh37
132 218

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
no assertion criteria provided
Method: curation
Sengers syndrome
Allele origin: inherited
Department of Heart Center,Qingdao Women and Children's Hospital
Accession: SCV001448201.1
Submitted: (Nov 20, 2020)
Evidence details
Publications
PubMed (3)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Mutation in the AGK gene in two siblings with unusual Sengers syndrome. Allali S Metabolic brain disease 2017 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 Orphanet journal of rare diseases 2014 PMID: 25208612
Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations. Siriwardena K Molecular genetics and metabolism 2013 PMID: 23266196

Record last updated Oct 08, 2021