NM_018238.4(AGK):c.*82_*83del AND Sengers syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000358172.5

Allele description [Variation Report for NM_018238.4(AGK):c.*82_*83del]

NM_018238.4(AGK):c.*82_*83del

Gene:
AGK:acylglycerol kinase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q34
Genomic location:
Preferred name:
NM_018238.4(AGK):c.*82_*83del
HGVS:
  • NC_000007.14:g.141653006_141653007del
  • NG_032079.1:g.106729_106730del
  • NM_018238.4:c.*82_*83delMANE SELECT
  • LRG_1251t1:c.*82_*83del
  • LRG_1251:g.106729_106730del
  • NC_000007.13:g.141352806_141352807del
  • NM_018238.3:c.*82_*83delCA
Links:
dbSNP: rs886062021
NCBI 1000 Genomes Browser:
rs886062021
Molecular consequence:
  • NM_018238.4:c.*82_*83del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000467049Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000467049.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 9, 2023