rs11078528
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001140.5(ALOX15):c.337+8C>T variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.284 in 1,605,980 control chromosomes in the GnomAD database, including 58,488 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001140.5 splice_region, intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ALOX15 | NM_001140.5 | c.337+8C>T | splice_region_variant, intron_variant | ENST00000293761.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ALOX15 | ENST00000293761.8 | c.337+8C>T | splice_region_variant, intron_variant | 1 | NM_001140.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.297 AC: 45108AN: 151712Hom.: 6768 Cov.: 30
GnomAD3 exomes AF: 0.300 AC: 74030AN: 246988Hom.: 10561 AF XY: 0.292 AC XY: 39197AN XY: 134178
GnomAD4 exome AF: 0.282 AC: 410191AN: 1454152Hom.: 51719 Cov.: 49 AF XY: 0.281 AC XY: 203443AN XY: 723490
GnomAD4 genome ? AF: 0.297 AC: 45133AN: 151828Hom.: 6769 Cov.: 30 AF XY: 0.298 AC XY: 22139AN XY: 74174
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at