NM_000016.5(ACADM):c.388-12_388-10del AND not provided

Clinical significance:Uncertain significance (Last evaluated: Oct 2, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000077888.5

Allele description [Variation Report for NM_000016.5(ACADM):c.388-12_388-10del]

NM_000016.5(ACADM):c.388-12_388-10del

Gene:
ACADM:acyl-CoA dehydrogenase medium chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p31.1
Genomic location:
Preferred name:
NM_000016.5(ACADM):c.388-12_388-10del
HGVS:
  • NC_000001.11:g.75734779_75734781del
  • NG_007045.2:g.15422_15424del
  • NM_000016.5:c.388-12_388-10del
  • NM_001127328.2:c.400-12_400-10del
  • NM_001286042.1:c.280-12_280-10del
  • NM_001286043.1:c.487-12_487-10del
  • NM_001286044.1:c.-100+1857_-100+1859del
  • LRG_838t1:c.388-12_388-10del
  • LRG_838:g.15422_15424del
  • NC_000001.10:g.76200464_76200466del
  • NM_000016.4:c.388-12_388-10delTTT
Links:
dbSNP: rs398123076
NCBI 1000 Genomes Browser:
rs398123076
Molecular consequence:
  • NM_000016.5:c.388-12_388-10del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001127328.2:c.400-12_400-10del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001286042.1:c.280-12_280-10del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001286043.1:c.487-12_487-10del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001286044.1:c.-100+1857_-100+1859del - intron variant - [Sequence Ontology: SO:0001627]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000109717EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Oct 2, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000109717.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 30, 2020

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