rs12856122
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001318510.2(ACSL4):c.-66+13799A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.41 in 110,035 control chromosomes in the GnomAD database, including 8,019 homozygotes. There are 12,950 hemizygotes in GnomAD. 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
Consequence
NM_001318510.2 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ACSL4 | NM_001318510.2 | c.-66+13799A>C | intron_variant | ENST00000672401.1 | NP_001305439.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ACSL4 | ENST00000672401.1 | c.-66+13799A>C | intron_variant | NM_001318510.2 | ENSP00000500273 | P4 |
Frequencies
GnomAD3 genomes AF: 0.411 AC: 45157AN: 109979Hom.: 8024 Cov.: 22 AF XY: 0.401 AC XY: 12944AN XY: 32275
GnomAD4 genome AF: 0.410 AC: 45144AN: 110035Hom.: 8019 Cov.: 22 AF XY: 0.400 AC XY: 12950AN XY: 32341
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at