X-47976864-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001007088.2(ZNF182):c.1166G>A(p.Gly389Glu) variant causes a missense change. The variant allele was found at a frequency of 0.0000137 in 1,094,945 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 6 hemizygotes in GnomAD. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001007088.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF182 | NM_001007088.2 | c.1166G>A | p.Gly389Glu | missense_variant | Exon 6 of 6 | ENST00000376943.8 | NP_001007089.1 | |
ZNF182 | NM_001178099.2 | c.1223G>A | p.Gly408Glu | missense_variant | Exon 7 of 7 | NP_001171570.1 | ||
ZNF182 | NM_006962.2 | c.1223G>A | p.Gly408Glu | missense_variant | Exon 7 of 7 | NP_008893.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF182 | ENST00000376943.8 | c.1166G>A | p.Gly389Glu | missense_variant | Exon 6 of 6 | 1 | NM_001007088.2 | ENSP00000366142.4 | ||
ZNF182 | ENST00000396965.5 | c.1223G>A | p.Gly408Glu | missense_variant | Exon 7 of 7 | 2 | ENSP00000380165.1 | |||
ZNF81 | ENST00000376950.4 | c.278-25664C>T | intron_variant | Intron 4 of 4 | 5 | ENSP00000366149.4 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD3 exomes AF: 0.0000113 AC: 2AN: 177608Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 62612
GnomAD4 exome AF: 0.0000137 AC: 15AN: 1094945Hom.: 0 Cov.: 31 AF XY: 0.0000166 AC XY: 6AN XY: 360601
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1223G>A (p.G408E) alteration is located in exon 7 (coding exon 4) of the ZNF182 gene. This alteration results from a G to A substitution at nucleotide position 1223, causing the glycine (G) at amino acid position 408 to be replaced by a glutamic acid (E). 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