19-52034184-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014650.4(ZNF432):c.1495G>A(p.Gly499Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000118 in 1,612,728 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014650.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF432 | NM_014650.4 | c.1495G>A | p.Gly499Arg | missense_variant | 5/5 | ENST00000221315.10 | |
ZNF432 | NM_001322284.2 | c.1495G>A | p.Gly499Arg | missense_variant | 5/5 | ||
ZNF432 | NM_001322285.1 | c.1495G>A | p.Gly499Arg | missense_variant | 5/5 | ||
ZNF432 | XM_024451806.2 | c.1207G>A | p.Gly403Arg | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF432 | ENST00000221315.10 | c.1495G>A | p.Gly499Arg | missense_variant | 5/5 | 1 | NM_014650.4 | P1 | |
ZNF432 | ENST00000594154.5 | c.1495G>A | p.Gly499Arg | missense_variant | 5/5 | 1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000113 AC: 17AN: 150790Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000796 AC: 20AN: 251340Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135856
GnomAD4 exome AF: 0.000118 AC: 173AN: 1461818Hom.: 0 Cov.: 30 AF XY: 0.0000976 AC XY: 71AN XY: 727206
GnomAD4 genome AF: 0.000119 AC: 18AN: 150910Hom.: 0 Cov.: 33 AF XY: 0.000109 AC XY: 8AN XY: 73716
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at