ClinVar

NM_000018.4(ACADVL):c.277+2T>C

Gene:

ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7220678 (on Assembly GRCh38)
• Chr17: 7123997 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.277+2T>C

Other names:

NM_000018.4:c.277+2T>C

HGVS:

• NC_000017.11:g.7220678T>C
• NG_007975.1:g.5845T>C
• NG_008391.2:g.4373A>G
• NG_008391.3:g.4372A>G
• NG_135374.1:g.549T>C
• NM_000018.4:c.277+2T>CMANE SELECT
• NM_001033859.3:c.211+2T>C
• NM_001270447.2:c.346+2T>C
• NM_001270448.2:c.49+2T>C
• NC_000017.10:g.7123997T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs1555527745

NCBI 1000 Genomes Browser:

rs1555527745

Molecular consequence:

• NM_000018.4:c.277+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001033859.3:c.211+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001270447.2:c.346+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001270448.2:c.49+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

Functional consequence:

sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071] - Comment(s)

• Intron inclusion between exons 4 & 5, based on review of RNA-seq in TCGA-G4-6586-01A tumor which has ACADVL NM_000018.4:c.277+2T>C variant