22-39086387-T-G
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_021822.4(APOBEC3G):āc.844T>Gā(p.Phe282Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000372 in 1,614,096 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 (ā ).
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.844T>G | p.Phe282Val | missense_variant | Exon 6 of 8 | ENST00000407997.4 | NP_068594.1 | |
APOBEC3G | NM_001349436.1 | c.811T>G | p.Phe271Val | missense_variant | Exon 6 of 8 | NP_001336365.1 | ||
APOBEC3G | NM_001349437.2 | c.643T>G | p.Phe215Val | missense_variant | Exon 5 of 7 | NP_001336366.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152212Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251482Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135916
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461884Hom.: 0 Cov.: 34 AF XY: 0.00000413 AC XY: 3AN XY: 727246
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152212Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74362
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.844T>G (p.F282V) alteration is located in exon 6 (coding exon 6) of the APOBEC3G gene. This alteration results from a T to G substitution at nucleotide position 844, causing the phenylalanine (F) at amino acid position 282 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