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NM_018238.3(AGK):c.-100G>A 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:
RCV000381866.14

Allele description [Variation Report for NM_018238.3(AGK):c.-100G>A]

NM_018238.3(AGK):c.-100G>A

Gene:
AGK:acylglycerol kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q34
Genomic location:
Preferred name:
NM_018238.3(AGK):c.-100G>A
HGVS:
  • NC_000007.14:g.141551349G>A
  • NG_032079.1:g.5072G>A
  • NG_178957.1:g.245G>A
  • NM_018238.3:c.-100G>A
  • LRG_1251:g.5072G>A
  • NC_000007.13:g.141251149G>A
Links:
dbSNP: rs552726046
NCBI 1000 Genomes Browser:
rs552726046

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
SCV000467015Illumina 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, SCV000467015.2

#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: Oct 26, 2024