rs40831
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Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP7BA1
The NM_018690.4(APOBR):āc.2085A>Gā(p.Ala695=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.441 in 1,603,570 control chromosomes in the GnomAD database, including 158,570 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
Genomes: š 0.46 ( 16698 hom., cov: 32)
Exomes š: 0.44 ( 141872 hom. )
Consequence
APOBR
NM_018690.4 synonymous
NM_018690.4 synonymous
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.756
Genes affected
APOBR (HGNC:24087): (apolipoprotein B receptor) Apolipoprotein B48 receptor is a macrophage receptor that binds to the apolipoprotein B48 of dietary triglyceride (TG)-rich lipoproteins. This receptor may provide essential lipids, lipid-soluble vitamins and other nutrients to reticuloendothelial cells. If overwhelmed with elevated plasma triglyceride, the apolipoprotein B48 receptor may contribute to foam cell formation, endothelial dysfunction, and atherothrombogenesis. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -13 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.86).
BP7
?
Synonymous conserved (PhyloP=-0.756 with no splicing effect.
BA1
?
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.564 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
APOBR | NM_018690.4 | c.2085A>G | p.Ala695= | synonymous_variant | 2/4 | ENST00000564831.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
APOBR | ENST00000564831.6 | c.2085A>G | p.Ala695= | synonymous_variant | 2/4 | 1 | NM_018690.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.463 AC: 70256AN: 151894Hom.: 16677 Cov.: 32
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GnomAD3 exomes AF: 0.457 AC: 105580AN: 230918Hom.: 24812 AF XY: 0.457 AC XY: 57241AN XY: 125146
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GnomAD4 exome AF: 0.438 AC: 636192AN: 1451558Hom.: 141872 Cov.: 85 AF XY: 0.442 AC XY: 318382AN XY: 721074
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GnomAD4 genome ? AF: 0.463 AC: 70328AN: 152012Hom.: 16698 Cov.: 32 AF XY: 0.467 AC XY: 34717AN XY: 74308
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ClinVar
Not reported inComputational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at