rs17000736
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_021822.4(APOBEC3G):c.767G>A(p.Arg256His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000769 in 1,597,250 control chromosomes in the GnomAD database, including 12 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 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 the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_021822.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
APOBEC3G | NM_021822.4 | c.767G>A | p.Arg256His | missense_variant | Exon 6 of 8 | ENST00000407997.4 | NP_068594.1 | |
APOBEC3G | NM_001349436.1 | c.734G>A | p.Arg245His | missense_variant | Exon 6 of 8 | NP_001336365.1 | ||
APOBEC3G | NM_001349437.2 | c.566G>A | p.Arg189His | missense_variant | Exon 5 of 7 | NP_001336366.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00389 AC: 592AN: 152006Hom.: 3 Cov.: 32
GnomAD3 exomes AF: 0.00110 AC: 270AN: 244834Hom.: 4 AF XY: 0.000814 AC XY: 108AN XY: 132654
GnomAD4 exome AF: 0.000441 AC: 638AN: 1445126Hom.: 9 Cov.: 34 AF XY: 0.000378 AC XY: 271AN XY: 716902
GnomAD4 genome AF: 0.00388 AC: 590AN: 152124Hom.: 3 Cov.: 32 AF XY: 0.00354 AC XY: 263AN XY: 74356
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at