12-109188171-CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001093.4(ACACB):c.2144+33_2144+72del variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000295 in 1,357,024 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000029 ( 0 hom., cov: 0)
Exomes 𝑓: 8.0e-7 ( 0 hom. )
Consequence
ACACB
NM_001093.4 intron
NM_001093.4 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.21
Genes affected
ACACB (HGNC:85): (acetyl-CoA carboxylase beta) Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. [provided by RefSeq, Oct 2022]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ACACB | NM_001093.4 | c.2144+33_2144+72del | intron_variant | ENST00000338432.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACACB | ENST00000338432.12 | c.2144+33_2144+72del | intron_variant | 1 | NM_001093.4 | P1 | |||
ACACB | ENST00000377848.7 | c.2144+33_2144+72del | intron_variant | 1 | P1 | ||||
ACACB | ENST00000377854.9 | c.-1859+33_-1859+72del | intron_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000286 AC: 3AN: 105050Hom.: 0 Cov.: 0
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GnomAD4 exome AF: 7.99e-7 AC: 1AN: 1251974Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 617866
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GnomAD4 genome AF: 0.0000286 AC: 3AN: 105050Hom.: 0 Cov.: 0 AF XY: 0.0000201 AC XY: 1AN XY: 49634
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at