chr22-39080960-G-A
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM1PM2PP3_Strong
The NM_021822.4(APOBEC3G):c.199G>A(p.Glu67Lys) variant causes a missense change. The variant allele was found at a frequency of 0.00000874 in 1,601,894 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 8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000199 AC: 3AN: 150824Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000797 AC: 2AN: 250958Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135682
GnomAD4 exome AF: 0.00000758 AC: 11AN: 1451070Hom.: 0 Cov.: 34 AF XY: 0.0000125 AC XY: 9AN XY: 721964
GnomAD4 genome AF: 0.0000199 AC: 3AN: 150824Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 73568
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.199G>A (p.E67K) alteration is located in exon 3 (coding exon 3) of the APOBEC3G gene. This alteration results from a G to A substitution at nucleotide position 199, causing the glutamic acid (E) at amino acid position 67 to be replaced by a lysine (K). 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