12-109191652-C-T
Variant names:
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP7BA1
The NM_001093.4(ACACB):c.2184C>T(p.Gly728Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.508 in 1,613,776 control chromosomes in the GnomAD database, including 213,475 homozygotes. 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
Genomes: 𝑓 0.45 ( 16637 hom., cov: 32)
Exomes 𝑓: 0.51 ( 196838 hom. )
Consequence
ACACB
NM_001093.4 synonymous
NM_001093.4 synonymous
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -2.31
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 Benign. Variant got -13 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.71).
BP7
Synonymous conserved (PhyloP=-2.31 with no splicing effect.
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.537 is higher than 0.05.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ACACB | ENST00000338432.12 | c.2184C>T | p.Gly728Gly | synonymous_variant | Exon 14 of 53 | 1 | NM_001093.4 | ENSP00000341044.7 | ||
ACACB | ENST00000377848.7 | c.2184C>T | p.Gly728Gly | synonymous_variant | Exon 13 of 52 | 1 | ENSP00000367079.3 | |||
ACACB | ENST00000377854 | c.-1819C>T | 5_prime_UTR_variant | Exon 13 of 47 | 5 | ENSP00000367085.6 | ||||
ACACB | ENST00000544651.1 | n.175C>T | non_coding_transcript_exon_variant | Exon 1 of 2 | 3 |
Frequencies
GnomAD3 genomes AF: 0.449 AC: 68266AN: 151904Hom.: 16640 Cov.: 32
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GnomAD3 exomes AF: 0.493 AC: 123965AN: 251404Hom.: 31947 AF XY: 0.498 AC XY: 67671AN XY: 135874
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GnomAD4 exome AF: 0.515 AC: 752291AN: 1461754Hom.: 196838 Cov.: 54 AF XY: 0.515 AC XY: 374210AN XY: 727180
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GnomAD4 genome AF: 0.449 AC: 68275AN: 152022Hom.: 16637 Cov.: 32 AF XY: 0.449 AC XY: 33328AN XY: 74302
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Not reported inComputational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at