rs17496046
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_021822.4(APOBEC3G):āc.823C>Gā(p.Gln275Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0676 in 1,613,934 control chromosomes in the GnomAD database, including 4,282 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_021822.4 missense
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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
APOBEC3G | NM_021822.4 | c.823C>G | p.Gln275Glu | missense_variant | 6/8 | ENST00000407997.4 | NP_068594.1 | |
APOBEC3G | NM_001349436.1 | c.790C>G | p.Gln264Glu | missense_variant | 6/8 | NP_001336365.1 | ||
APOBEC3G | NM_001349437.2 | c.622C>G | p.Gln208Glu | missense_variant | 5/7 | NP_001336366.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
APOBEC3G | ENST00000407997.4 | c.823C>G | p.Gln275Glu | missense_variant | 6/8 | 1 | NM_021822.4 | ENSP00000385057.3 |
Frequencies
GnomAD3 genomes AF: 0.0822 AC: 12497AN: 152100Hom.: 604 Cov.: 32
GnomAD3 exomes AF: 0.0562 AC: 14121AN: 251392Hom.: 510 AF XY: 0.0533 AC XY: 7240AN XY: 135874
GnomAD4 exome AF: 0.0661 AC: 96665AN: 1461716Hom.: 3677 Cov.: 34 AF XY: 0.0642 AC XY: 46713AN XY: 727160
GnomAD4 genome AF: 0.0822 AC: 12513AN: 152218Hom.: 605 Cov.: 32 AF XY: 0.0793 AC XY: 5900AN XY: 74436
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at