rs144179214
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_021822.4(APOBEC3G):āc.1106A>Cā(p.Gln369Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,672 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_021822.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
APOBEC3G | NM_021822.4 | c.1106A>C | p.Gln369Pro | missense_variant | Exon 7 of 8 | ENST00000407997.4 | NP_068594.1 | |
APOBEC3G | NM_001349436.1 | c.1073A>C | p.Gln358Pro | missense_variant | Exon 7 of 8 | NP_001336365.1 | ||
APOBEC3G | NM_001349437.2 | c.905A>C | p.Gln302Pro | missense_variant | Exon 6 of 7 | NP_001336366.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461672Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727110
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.