4-145110244-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002940.3(ABCE1):c.543+4G>T variant causes a splice donor region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 151,900 control chromosomes in the GnomAD database, with no homozygous occurrence. 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_002940.3 splice_donor_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABCE1 | NM_002940.3 | c.543+4G>T | splice_donor_region_variant, intron_variant | ENST00000296577.9 | |||
ABCE1 | NM_001040876.2 | c.543+4G>T | splice_donor_region_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABCE1 | ENST00000296577.9 | c.543+4G>T | splice_donor_region_variant, intron_variant | 1 | NM_002940.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151900Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000425 AC: 1AN: 235362Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 127108
GnomAD4 exome Cov.: 33
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151900Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74182
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at