chr22-39086541-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_021822.4(APOBEC3G):c.998C>A(p.Ala333Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000124 in 1,608,446 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
APOBEC3G | NM_021822.4 | c.998C>A | p.Ala333Asp | missense_variant | Exon 6 of 8 | ENST00000407997.4 | NP_068594.1 | |
APOBEC3G | NM_001349436.1 | c.965C>A | p.Ala322Asp | missense_variant | Exon 6 of 8 | NP_001336365.1 | ||
APOBEC3G | NM_001349437.2 | c.797C>A | p.Ala266Asp | missense_variant | Exon 5 of 7 | NP_001336366.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000789 AC: 12AN: 152126Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000121 AC: 3AN: 248470Hom.: 0 AF XY: 0.00000745 AC XY: 1AN XY: 134270
GnomAD4 exome AF: 0.00000549 AC: 8AN: 1456320Hom.: 0 Cov.: 34 AF XY: 0.00000415 AC XY: 3AN XY: 723746
GnomAD4 genome AF: 0.0000789 AC: 12AN: 152126Hom.: 0 Cov.: 32 AF XY: 0.0000942 AC XY: 7AN XY: 74324
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.998C>A (p.A333D) alteration is located in exon 6 (coding exon 6) of the APOBEC3G gene. This alteration results from a C to A substitution at nucleotide position 998, causing the alanine (A) at amino acid position 333 to be replaced by an aspartic acid (D). 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