chr22-39083738-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_021822.4(APOBEC3G):c.589A>G(p.Met197Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000638 in 1,613,712 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. 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 Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
APOBEC3G | NM_021822.4 | c.589A>G | p.Met197Val | missense_variant | 5/8 | ENST00000407997.4 | |
APOBEC3G | NM_001349436.1 | c.556A>G | p.Met186Val | missense_variant | 5/8 | ||
APOBEC3G | NM_001349437.2 | c.388A>G | p.Met130Val | missense_variant | 4/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
APOBEC3G | ENST00000407997.4 | c.589A>G | p.Met197Val | missense_variant | 5/8 | 1 | NM_021822.4 | P1 | |
APOBEC3G | ENST00000461827.5 | n.657A>G | non_coding_transcript_exon_variant | 5/5 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000657 AC: 10AN: 152126Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000518 AC: 13AN: 251186Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135742
GnomAD4 exome AF: 0.0000636 AC: 93AN: 1461586Hom.: 0 Cov.: 31 AF XY: 0.0000660 AC XY: 48AN XY: 727080
GnomAD4 genome ? AF: 0.0000657 AC: 10AN: 152126Hom.: 0 Cov.: 31 AF XY: 0.0000538 AC XY: 4AN XY: 74318
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 02, 2022 | The c.589A>G (p.M197V) alteration is located in exon 5 (coding exon 5) of the APOBEC3G gene. This alteration results from a A to G substitution at nucleotide position 589, causing the methionine (M) at amino acid position 197 to be replaced by a valine (V). 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