NM_001145543.2:c.1096A>G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001145543.2(ZSCAN18):c.1096A>G(p.Lys366Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000933 in 1,607,530 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. K366Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_001145543.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZSCAN18 | NM_001145543.2 | c.1096A>G | p.Lys366Glu | missense_variant | Exon 7 of 7 | ENST00000601144.6 | NP_001139015.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000592 AC: 9AN: 152138Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000126 AC: 3AN: 238434Hom.: 0 AF XY: 0.00000767 AC XY: 1AN XY: 130360
GnomAD4 exome AF: 0.00000412 AC: 6AN: 1455392Hom.: 0 Cov.: 32 AF XY: 0.00000415 AC XY: 3AN XY: 723554
GnomAD4 genome AF: 0.0000592 AC: 9AN: 152138Hom.: 0 Cov.: 32 AF XY: 0.0000673 AC XY: 5AN XY: 74320
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1264A>G (p.K422E) alteration is located in exon 7 (coding exon 7) of the ZSCAN18 gene. This alteration results from a A to G substitution at nucleotide position 1264, causing the lysine (K) at amino acid position 422 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