chr2-222922829-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004457.5(ACSL3):c.1078C>G(p.Gln360Glu) variant causes a missense, splice region change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,194 control chromosomes in the GnomAD database, with no homozygous occurrence. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Q360R) has been classified as Uncertain significance.
Frequency
Consequence
NM_004457.5 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ACSL3 | NM_004457.5 | c.1078C>G | p.Gln360Glu | missense_variant, splice_region_variant | Exon 9 of 17 | ENST00000357430.8 | NP_004448.2 | |
ACSL3 | NM_001354158.2 | c.1078C>G | p.Gln360Glu | missense_variant, splice_region_variant | Exon 8 of 16 | NP_001341087.1 | ||
ACSL3 | NM_001354159.2 | c.1078C>G | p.Gln360Glu | missense_variant, splice_region_variant | Exon 7 of 15 | NP_001341088.1 | ||
ACSL3 | NM_203372.3 | c.1078C>G | p.Gln360Glu | missense_variant, splice_region_variant | Exon 8 of 16 | NP_976251.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152194Hom.: 0 Cov.: 33
GnomAD4 exome Cov.: 29
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152194Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74362
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1078C>G (p.Q360E) alteration is located in exon 9 (coding exon 6) of the ACSL3 gene. This alteration results from a C to G substitution at nucleotide position 1078, causing the glutamine (Q) at amino acid position 360 to be replaced by a glutamic acid (E). 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