NM_000017.4:c.360+21C>T
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_000017.4(ACADS):c.360+21C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000142 in 1,413,228 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000017.4 intron
Scores
Clinical Significance
Conservation
Publications
- short chain acyl-CoA dehydrogenase deficiencyInheritance: AR Classification: DEFINITIVE, STRONG, SUPPORTIVE Submitted by: Ambry Genetics, Labcorp Genetics (formerly Invitae), G2P, PanelApp Australia, Orphanet, ClinGen
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ACADS | ENST00000242592.9 | c.360+21C>T | intron_variant | Intron 3 of 9 | 1 | NM_000017.4 | ENSP00000242592.4 | |||
ACADS | ENST00000539690.1 | n.493C>T | non_coding_transcript_exon_variant | Exon 3 of 3 | 2 | |||||
ACADS | ENST00000411593.2 | c.360+21C>T | intron_variant | Intron 3 of 9 | 2 | ENSP00000401045.2 | ||||
ENSG00000255946 | ENST00000724268.1 | n.305-6868G>A | intron_variant | Intron 1 of 1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD2 exomes AF: 0.00000580 AC: 1AN: 172436 AF XY: 0.0000109 show subpopulations
GnomAD4 exome AF: 0.00000142 AC: 2AN: 1413228Hom.: 0 Cov.: 34 AF XY: 0.00000143 AC XY: 1AN XY: 698694 show subpopulations
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at