rs139298
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_181773.5(APOBEC3H):āc.361A>Gā(p.Lys121Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.478 in 1,609,282 control chromosomes in the GnomAD database, including 190,935 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. K121N) has been classified as Likely benign.
Frequency
Consequence
NM_181773.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
APOBEC3H | NM_181773.5 | c.361A>G | p.Lys121Glu | missense_variant | 3/5 | ENST00000442487.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
APOBEC3H | ENST00000442487.8 | c.361A>G | p.Lys121Glu | missense_variant | 3/5 | 3 | NM_181773.5 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.562 AC: 83167AN: 147912Hom.: 25210 Cov.: 21
GnomAD3 exomes AF: 0.474 AC: 118877AN: 250842Hom.: 29816 AF XY: 0.475 AC XY: 64381AN XY: 135646
GnomAD4 exome AF: 0.470 AC: 686725AN: 1461250Hom.: 165688 Cov.: 57 AF XY: 0.470 AC XY: 341894AN XY: 726944
GnomAD4 genome ? AF: 0.562 AC: 83260AN: 148032Hom.: 25247 Cov.: 21 AF XY: 0.561 AC XY: 40398AN XY: 72014
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at