ClinVar

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:

• Chr1: 75732642 (on Assembly GRCh38)
• Chr1: 76198327 (on Assembly GRCh37)

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

This HGVS expression did not pass validation

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)

• 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