rs7887981
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001318510.2(ACSL4):c.1855+7336A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.198 in 110,944 control chromosomes in the GnomAD database, including 2,029 homozygotes. There are 6,180 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 | UniProt |
---|---|---|---|---|---|---|---|
ACSL4 | NM_001318510.2 | c.1855+7336A>G | intron_variant | ENST00000672401.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACSL4 | ENST00000672401.1 | c.1855+7336A>G | intron_variant | NM_001318510.2 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.198 AC: 21923AN: 110885Hom.: 2028 Cov.: 22 AF XY: 0.186 AC XY: 6182AN XY: 33155
GnomAD4 genome ? AF: 0.198 AC: 21915AN: 110944Hom.: 2029 Cov.: 22 AF XY: 0.186 AC XY: 6180AN XY: 33222
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at