1-183648553-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_203454.3(APOBEC4):c.229A>G(p.Ser77Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000136 in 1,614,230 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_203454.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
APOBEC4 | ENST00000308641.6 | c.229A>G | p.Ser77Gly | missense_variant | Exon 2 of 2 | 1 | NM_203454.3 | ENSP00000310622.4 | ||
RGL1 | ENST00000304685.8 | c.-33+12052T>C | intron_variant | Intron 1 of 18 | 1 | ENSP00000303192.3 | ||||
APOBEC4 | ENST00000481562.1 | n.246-756A>G | intron_variant | Intron 1 of 1 | 3 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152234Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000319 AC: 8AN: 251072Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135726
GnomAD4 exome AF: 0.0000144 AC: 21AN: 1461878Hom.: 0 Cov.: 33 AF XY: 0.0000151 AC XY: 11AN XY: 727242
GnomAD4 genome AF: 0.00000656 AC: 1AN: 152352Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74514
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.229A>G (p.S77G) alteration is located in exon 2 (coding exon 1) of the APOBEC4 gene. This alteration results from a A to G substitution at nucleotide position 229, causing the serine (S) at amino acid position 77 to be replaced by a glycine (G). 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