19-43607849-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_182498.4(ZNF428):c.335G>A(p.Arg112Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000122 in 1,557,068 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_182498.4 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 |
---|---|---|---|---|---|---|---|---|---|---|
ZNF428 | ENST00000300811.8 | c.335G>A | p.Arg112Gln | missense_variant | Exon 3 of 3 | 1 | NM_182498.4 | ENSP00000300811.2 | ||
ZNF428 | ENST00000598676.1 | c.434G>A | p.Arg145Gln | missense_variant | Exon 4 of 4 | 5 | ENSP00000469484.1 | |||
SRRM5 | ENST00000607544.1 | c.-95-4178C>T | intron_variant | Intron 2 of 2 | 2 | ENSP00000476253.1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152126Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000127 AC: 2AN: 157448Hom.: 0 AF XY: 0.0000236 AC XY: 2AN XY: 84632
GnomAD4 exome AF: 0.0000114 AC: 16AN: 1404942Hom.: 0 Cov.: 36 AF XY: 0.0000130 AC XY: 9AN XY: 693678
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152126Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74294
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.335G>A (p.R112Q) alteration is located in exon 3 (coding exon 2) of the ZNF428 gene. This alteration results from a G to A substitution at nucleotide position 335, causing the arginine (R) at amino acid position 112 to be replaced by a glutamine (Q). 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