22-39086478-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_021822.4(APOBEC3G):c.935C>T(p.Ala312Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000496 in 1,614,070 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.935C>T | p.Ala312Val | missense_variant | Exon 6 of 8 | ENST00000407997.4 | NP_068594.1 | |
APOBEC3G | NM_001349436.1 | c.902C>T | p.Ala301Val | missense_variant | Exon 6 of 8 | NP_001336365.1 | ||
APOBEC3G | NM_001349437.2 | c.734C>T | p.Ala245Val | missense_variant | Exon 5 of 7 | NP_001336366.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152192Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461878Hom.: 0 Cov.: 34 AF XY: 0.00000550 AC XY: 4AN XY: 727240
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152192Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74358
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.935C>T (p.A312V) alteration is located in exon 6 (coding exon 6) of the APOBEC3G gene. This alteration results from a C to T substitution at nucleotide position 935, causing the alanine (A) at amino acid position 312 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