rs34796867
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_025079.3(ZC3H12A):c.277G>A(p.Glu93Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000465 in 1,613,402 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_025079.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZC3H12A | NM_025079.3 | c.277G>A | p.Glu93Lys | missense_variant | 2/6 | ENST00000373087.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZC3H12A | ENST00000373087.7 | c.277G>A | p.Glu93Lys | missense_variant | 2/6 | 1 | NM_025079.3 | P1 | |
ZC3H12A | ENST00000640233.1 | c.277G>A | p.Glu93Lys | missense_variant, NMD_transcript_variant | 2/6 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000591 AC: 9AN: 152210Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000800 AC: 20AN: 250042Hom.: 0 AF XY: 0.0000739 AC XY: 10AN XY: 135376
GnomAD4 exome AF: 0.0000452 AC: 66AN: 1461192Hom.: 0 Cov.: 31 AF XY: 0.0000495 AC XY: 36AN XY: 726864
GnomAD4 genome ? AF: 0.0000591 AC: 9AN: 152210Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5AN XY: 74354
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at