2-222916424-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_004457.5(ACSL3):āc.484A>Gā(p.Ile162Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000291 in 1,614,162 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_004457.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ACSL3 | NM_004457.5 | c.484A>G | p.Ile162Val | missense_variant | 5/17 | ENST00000357430.8 | NP_004448.2 | |
ACSL3 | NM_001354158.2 | c.484A>G | p.Ile162Val | missense_variant | 4/16 | NP_001341087.1 | ||
ACSL3 | NM_001354159.2 | c.484A>G | p.Ile162Val | missense_variant | 3/15 | NP_001341088.1 | ||
ACSL3 | NM_203372.3 | c.484A>G | p.Ile162Val | missense_variant | 4/16 | NP_976251.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ACSL3 | ENST00000357430.8 | c.484A>G | p.Ile162Val | missense_variant | 5/17 | 1 | NM_004457.5 | ENSP00000350012.3 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152234Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000875 AC: 22AN: 251304Hom.: 0 AF XY: 0.0000810 AC XY: 11AN XY: 135812
GnomAD4 exome AF: 0.0000274 AC: 40AN: 1461810Hom.: 0 Cov.: 31 AF XY: 0.0000261 AC XY: 19AN XY: 727212
GnomAD4 genome AF: 0.0000459 AC: 7AN: 152352Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74504
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 25, 2023 | The c.484A>G (p.I162V) alteration is located in exon 5 (coding exon 2) of the ACSL3 gene. This alteration results from a A to G substitution at nucleotide position 484, causing the isoleucine (I) at amino acid position 162 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at