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NM_018238.4(AGK):c.186G>T (p.Lys62Asn) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 3, 2013
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000196150.1

Allele description [Variation Report for NM_018238.4(AGK):c.186G>T (p.Lys62Asn)]

NM_018238.4(AGK):c.186G>T (p.Lys62Asn)

Gene:
AGK:acylglycerol kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q34
Genomic location:
Preferred name:
NM_018238.4(AGK):c.186G>T (p.Lys62Asn)
Other names:
p.K62N:AAG>AAT
HGVS:
  • NC_000007.14:g.141596606G>T
  • NG_032079.1:g.50329G>T
  • NM_001364948.3:c.186G>T
  • NM_018238.4:c.186G>TMANE SELECT
  • NP_001351877.1:p.Lys62Asn
  • NP_060708.1:p.Lys62Asn
  • LRG_1251t1:c.186G>T
  • LRG_1251:g.50329G>T
  • LRG_1251p1:p.Lys62Asn
  • NC_000007.13:g.141296406G>T
  • NM_018238.3:c.186G>T
Protein change:
K62N
Links:
dbSNP: rs199778260
NCBI 1000 Genomes Browser:
rs199778260
Molecular consequence:
  • NM_001364948.3:c.186G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018238.4:c.186G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000251104GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Dec 3, 2013) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000251104.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Mutations in the AGK gene are associated with the autosomal recessive disorder Sengers syndrome or myopathic mtDNA depletion syndrome 10. (AAG>AAT): c.186 G>T in exon 4 of the AGK gene (NM_018238.3) A variant of unknown significance has been identified in the AGK gene. The K62N missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The amino acid change is non-conservative in that a positively charged Lysine residue is replaced by an uncharged Asparagine residue. This change occurs at a highly conserved position in the AGK protein. In-silico analyses predict that K62N is damaging to the AGK protein. Based on the currently available information, it is unclear whether K62N is a disease-causing mutation or a rare benign variant. The variant is found in DEPLTN-MITOP panel(s).

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

Last Updated: May 1, 2024