NM_021822.4:c.938G>A
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM1PM2PP3_Moderate
The NM_021822.4(APOBEC3G):c.938G>A(p.Arg313His) variant causes a missense change. The variant allele was found at a frequency of 0.0000601 in 1,614,146 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_021822.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
APOBEC3G | NM_021822.4 | c.938G>A | p.Arg313His | missense_variant | Exon 6 of 8 | ENST00000407997.4 | NP_068594.1 | |
APOBEC3G | NM_001349436.1 | c.905G>A | p.Arg302His | missense_variant | Exon 6 of 8 | NP_001336365.1 | ||
APOBEC3G | NM_001349437.2 | c.737G>A | p.Arg246His | missense_variant | Exon 5 of 7 | NP_001336366.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152168Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000994 AC: 25AN: 251440Hom.: 0 AF XY: 0.000125 AC XY: 17AN XY: 135900
GnomAD4 exome AF: 0.0000588 AC: 86AN: 1461860Hom.: 0 Cov.: 34 AF XY: 0.0000660 AC XY: 48AN XY: 727228
GnomAD4 genome AF: 0.0000722 AC: 11AN: 152286Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74456
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.938G>A (p.R313H) alteration is located in exon 6 (coding exon 6) of the APOBEC3G gene. This alteration results from a G to A substitution at nucleotide position 938, causing the arginine (R) at amino acid position 313 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at