12-109113703-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000541704.2(ENSG00000256139):n.576+288G>A variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.537 in 152,140 control chromosomes in the GnomAD database, including 23,633 homozygotes. 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
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 |
---|---|---|---|---|---|---|---|
ACACB | NM_001412734.1 | c.-10+288G>A | intron_variant | ||||
ACACB | NM_001412737.1 | c.26+288G>A | intron_variant | ||||
ACACB | XM_011538263.4 | c.-10+288G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000541704.2 | n.576+288G>A | intron_variant, non_coding_transcript_variant | 5 | ||||||
UNG | ENST00000699563.1 | c.774+10092G>A | intron_variant |
Frequencies
GnomAD3 genomes AF: 0.536 AC: 81527AN: 152022Hom.: 23588 Cov.: 33
GnomAD4 genome AF: 0.537 AC: 81625AN: 152140Hom.: 23633 Cov.: 33 AF XY: 0.537 AC XY: 39954AN XY: 74396
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at