16-31435867-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001136509.3(ZNF843):c.983G>A(p.Gly328Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000439 in 1,367,992 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001136509.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF843 | ENST00000315678.10 | c.983G>A | p.Gly328Glu | missense_variant | Exon 2 of 2 | 2 | NM_001136509.3 | ENSP00000322899.5 | ||
ZNF843 | ENST00000618063.1 | c.983G>A | p.Gly328Glu | missense_variant | Exon 2 of 2 | 1 | ENSP00000483573.1 | |||
ZNF843 | ENST00000564218.5 | c.682+301G>A | intron_variant | Intron 2 of 2 | 5 | ENSP00000455858.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000797 AC: 1AN: 125484Hom.: 0 AF XY: 0.0000149 AC XY: 1AN XY: 66938
GnomAD4 exome AF: 0.00000439 AC: 6AN: 1367992Hom.: 0 Cov.: 30 AF XY: 0.00000446 AC XY: 3AN XY: 672318
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.983G>A (p.G328E) alteration is located in exon 2 (coding exon 1) of the ZNF843 gene. This alteration results from a G to A substitution at nucleotide position 983, causing the glycine (G) at amino acid position 328 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