2-222922811-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004457.5(ACSL3):c.1060C>T(p.Pro354Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000496 in 1,614,050 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004457.5 missense
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.1060C>T | p.Pro354Ser | missense_variant | Exon 9 of 17 | ENST00000357430.8 | NP_004448.2 | |
ACSL3 | NM_001354158.2 | c.1060C>T | p.Pro354Ser | missense_variant | Exon 8 of 16 | NP_001341087.1 | ||
ACSL3 | NM_001354159.2 | c.1060C>T | p.Pro354Ser | missense_variant | Exon 7 of 15 | NP_001341088.1 | ||
ACSL3 | NM_203372.3 | c.1060C>T | p.Pro354Ser | missense_variant | Exon 8 of 16 | NP_976251.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152216Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251320Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135828
GnomAD4 exome AF: 0.00000410 AC: 6AN: 1461834Hom.: 0 Cov.: 29 AF XY: 0.00000138 AC XY: 1AN XY: 727220
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152216Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74362
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1060C>T (p.P354S) alteration is located in exon 9 (coding exon 6) of the ACSL3 gene. This alteration results from a C to T substitution at nucleotide position 1060, causing the proline (P) at amino acid position 354 to be replaced by a serine (S). 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