chr19-12349883-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_030824.3(ZNF442):c.1702G>A(p.Gly568Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000706 in 1,613,658 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_030824.3 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 |
---|---|---|---|---|---|---|---|---|---|---|
ZNF442 | ENST00000242804.9 | c.1702G>A | p.Gly568Arg | missense_variant | Exon 6 of 6 | 2 | NM_030824.3 | ENSP00000242804.4 | ||
ZNF442 | ENST00000545749.2 | c.1702G>A | p.Gly568Arg | missense_variant | Exon 4 of 4 | 5 | ENSP00000440162.2 | |||
ZNF442 | ENST00000438182.5 | c.1495G>A | p.Gly499Arg | missense_variant | Exon 3 of 3 | 2 | ENSP00000388634.1 |
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 151692Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000994 AC: 25AN: 251438Hom.: 0 AF XY: 0.0000883 AC XY: 12AN XY: 135892
GnomAD4 exome AF: 0.0000670 AC: 98AN: 1461848Hom.: 0 Cov.: 31 AF XY: 0.0000729 AC XY: 53AN XY: 727222
GnomAD4 genome AF: 0.000105 AC: 16AN: 151810Hom.: 0 Cov.: 32 AF XY: 0.0000809 AC XY: 6AN XY: 74192
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1702G>A (p.G568R) alteration is located in exon 6 (coding exon 4) of the ZNF442 gene. This alteration results from a G to A substitution at nucleotide position 1702, causing the glycine (G) at amino acid position 568 to be replaced by an arginine (R). 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