16-3382913-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001284527.2(ZSCAN32):c.2033G>A(p.Arg678His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00021 in 1,609,294 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001284527.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZSCAN32 | ENST00000396852.9 | c.2033G>A | p.Arg678His | missense_variant | Exon 7 of 7 | 1 | NM_001284527.2 | ENSP00000380061.4 | ||
ENSG00000285329 | ENST00000575785.2 | n.-13+17731C>T | intron_variant | Intron 1 of 4 | 4 | ENSP00000477472.1 |
Frequencies
GnomAD3 genomes AF: 0.0000986 AC: 15AN: 152152Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000129 AC: 32AN: 247838Hom.: 0 AF XY: 0.000112 AC XY: 15AN XY: 133922
GnomAD4 exome AF: 0.000222 AC: 323AN: 1457024Hom.: 0 Cov.: 31 AF XY: 0.000213 AC XY: 154AN XY: 724440
GnomAD4 genome AF: 0.0000985 AC: 15AN: 152270Hom.: 0 Cov.: 32 AF XY: 0.000107 AC XY: 8AN XY: 74470
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1397G>A (p.R466H) alteration is located in exon 6 (coding exon 3) of the ZSCAN32 gene. This alteration results from a G to A substitution at nucleotide position 1397, causing the arginine (R) at amino acid position 466 to be replaced by a histidine (H). 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