chr2-21044155-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_000384.3(APOB):c.-210G>A variant causes a upstream gene change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000589 in 169,686 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_000384.3 upstream_gene
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
APOB | ENST00000233242.5 | c.-210G>A | upstream_gene_variant | 1 | NM_000384.3 | ENSP00000233242.1 | ||||
APOB | ENST00000399256.4 | c.-210G>A | upstream_gene_variant | 1 | ENSP00000382200.4 | |||||
APOB | ENST00000673739.2 | n.-210G>A | upstream_gene_variant | ENSP00000501110.2 | ||||||
APOB | ENST00000673882.2 | n.-210G>A | upstream_gene_variant | ENSP00000501253.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000589 AC: 1AN: 169686Hom.: 0 AF XY: 0.0000114 AC XY: 1AN XY: 87824
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.