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 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 -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
APOBEC3G | NM_021822.4 | c.767G>A | p.Arg256His | missense_variant | 6/8 | ENST00000407997.4 | |
APOBEC3G | NM_001349436.1 | c.734G>A | p.Arg245His | missense_variant | 6/8 | ||
APOBEC3G | NM_001349437.2 | c.566G>A | p.Arg189His | missense_variant | 5/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
APOBEC3G | ENST00000407997.4 | c.767G>A | p.Arg256His | missense_variant | 6/8 | 1 | NM_021822.4 | P1 |
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