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NM_000016.6(ACADM):c.119-2A>G AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV002255109.2

Allele description [Variation Report for NM_000016.6(ACADM):c.119-2A>G]

NM_000016.6(ACADM):c.119-2A>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.119-2A>G
Other names:
NM_000016.6:c.119-2A>G
HGVS:
  • NC_000001.11:g.75732642A>G
  • NG_007045.2:g.13285A>G
  • NM_000016.6:c.119-2A>GMANE SELECT
  • NM_001127328.3:c.131-2A>G
  • NM_001286042.2:c.11-2A>G
  • NM_001286043.2:c.119-2A>G
  • NM_001286044.2:c.-267-2A>G
  • LRG_838:g.13285A>G
  • NC_000001.10:g.76198327A>G
Links:
dbSNP: rs1376804614
NCBI 1000 Genomes Browser:
rs1376804614
Molecular consequence:
  • NM_000016.6:c.119-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001127328.3:c.131-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001286042.2:c.11-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001286043.2:c.119-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001286044.2:c.-267-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
Functional consequence:
sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071] - Comment(s)

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
SCV002526433MutSpliceDB: a database of splice sites variants effects on splicing, NIH
no classification provided
not providedsomaticresearch

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot applicablenot providednot providednot providednot providednot providedresearch

Details of each submission

From MutSpliceDB: a database of splice sites variants effects on splicing, NIH, SCV002526433.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

Intron inclusion between exons 2 & 3, based on review of RNA-seq in TCGA-94-8491-01A tumor which has ACADM NM_000016.6:c.119-2A>G variant

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot applicablenot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023