NM_018238.4(AGK):c.1170T>G (p.Tyr390Ter) AND Sengers syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 25, 2012
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:: RCV000023809.3

Allele description [Variation Report for NM_018238.4(AGK):c.1170T>G (p.Tyr390Ter)]

NM_018238.4(AGK):c.1170T>G (p.Tyr390Ter)

Gene:

AGK:acylglycerol kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q34

Genomic location:

Preferred name:

NM_018238.4(AGK):c.1170T>G (p.Tyr390Ter)

HGVS:

NC_000007.14:g.141652825T>G
NG_032079.1:g.106548T>G
NM_018238.4:c.1170T>GMANE SELECT
NP_060708.1:p.Tyr390Ter
LRG_1251t1:c.1170T>G
LRG_1251:g.106548T>G
LRG_1251p1:p.Tyr390Ter
NC_000007.13:g.141352625T>G
NM_018238.3:c.1170T>G

Note:

ClinGen staff contributed the HGVS expression for this variant.

Protein change:

Y390*; TYR390TER

Links:

OMIM: 610345.0002; dbSNP: rs1554405935

NCBI 1000 Genomes Browser:

rs1554405935

Molecular consequence:

NM_018238.4:c.1170T>G - nonsense - [Sequence Ontology: SO:0001587]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000045100	OMIM	no assertion criteria provided	Pathogenic (Jan 25, 2012)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000045100

OMIM

no assertion criteria provided

Pathogenic
(Jan 25, 2012)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.

Calvo SE, Compton AG, Hershman SG, Lim SC, Lieber DS, Tucker EJ, Laskowski A, Garone C, Liu S, Jaffe DB, Christodoulou J, Fletcher JM, Bruno DL, Goldblatt J, Dimauro S, Thorburn DR, Mootha VK.

Sci Transl Med. 2012 Jan 25;4(118):118ra10. doi: 10.1126/scitranslmed.3003310.

PubMed [citation]

PMID:: 22277967
PMCID:: PMC3523805

Details of each submission

From OMIM, SCV000045100.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

For discussion of the tyr390-to-ter (Y390X) mutation in the AGK gene that was found in compound heterozygous state in a patient with Sengers syndrome (212350) by Calvo et al. (2012), see 610345.0001.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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