10-112417862-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_203379.2(ACSL5):c.1235G>T(p.Arg412Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,774 control chromosomes in the GnomAD database, with no homozygous occurrence. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_203379.2 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ACSL5 | NM_203379.2 | c.1235G>T | p.Arg412Met | missense_variant | 14/21 | ENST00000354655.9 | |
ACSL5 | NM_016234.4 | c.1403G>T | p.Arg468Met | missense_variant | 14/21 | ||
ACSL5 | NM_001387037.1 | c.1403G>T | p.Arg468Met | missense_variant | 14/20 | ||
ACSL5 | NM_203380.2 | c.1235G>T | p.Arg412Met | missense_variant | 14/21 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACSL5 | ENST00000354655.9 | c.1235G>T | p.Arg412Met | missense_variant | 14/21 | 2 | NM_203379.2 | P1 | |
ENST00000631085.2 | n.175+922C>A | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461774Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 727196
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 11, 2023 | The c.1403G>T (p.R468M) alteration is located in exon 14 (coding exon 14) of the ACSL5 gene. This alteration results from a G to T substitution at nucleotide position 1403, causing the arginine (R) at amino acid position 468 to be replaced by a methionine (M). 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
Publications
No publications associated with this variant yet.