NM_000016.6(ACADM):c.469-9A>G AND not provided

Clinical significance:Likely benign (Last evaluated: Apr 9, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001706209.1

Allele description [Variation Report for NM_000016.6(ACADM):c.469-9A>G]

NM_000016.6(ACADM):c.469-9A>G

Gene:
ACADM:acyl-CoA dehydrogenase medium chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p31.1
Genomic location:
Preferred name:
NM_000016.6(ACADM):c.469-9A>G
HGVS:
  • NC_000001.11:g.75739971A>G
  • NG_007045.2:g.20614A>G
  • NM_000016.6:c.469-9A>GMANE SELECT
  • NM_001127328.3:c.481-9A>G
  • NM_001286042.2:c.361-9A>G
  • NM_001286043.2:c.568-9A>G
  • NM_001286044.2:c.-99-9A>G
  • LRG_838t1:c.469-9A>G
  • LRG_838:g.20614A>G
  • NC_000001.10:g.76205656A>G
  • NM_000016.4:c.469-9A>G
  • NM_000016.5:c.469-9A>G
Links:
dbSNP: rs181322317
NCBI 1000 Genomes Browser:
rs181322317
Molecular consequence:
  • NM_000016.6:c.469-9A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001127328.3:c.481-9A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001286042.2:c.361-9A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001286043.2:c.568-9A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001286044.2:c.-99-9A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000526101GeneDxcriteria provided, single submitter
Likely benign
(Apr 9, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000526101.5

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

Last Updated: Nov 27, 2021

Support Center