chr19-44386954-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_152354.6(ZNF285):c.1291G>A(p.Gly431Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000384 in 1,613,518 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152354.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF285 | NM_152354.6 | c.1291G>A | p.Gly431Ser | missense_variant | 4/4 | ENST00000614994.5 | NP_689567.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF285 | ENST00000614994.5 | c.1291G>A | p.Gly431Ser | missense_variant | 4/4 | 1 | NM_152354.6 | ENSP00000483662 | P2 | |
ZNF285 | ENST00000591679.5 | c.1312G>A | p.Gly438Ser | missense_variant | 5/5 | 4 | ENSP00000464788 | A2 | ||
ZNF285 | ENST00000544719.6 | c.1291G>A | p.Gly431Ser | missense_variant | 4/4 | 5 | ENSP00000439431 | P2 |
Frequencies
GnomAD3 genomes AF: 0.000152 AC: 23AN: 151574Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000318 AC: 8AN: 251326Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135832
GnomAD4 exome AF: 0.0000253 AC: 37AN: 1461826Hom.: 0 Cov.: 34 AF XY: 0.0000220 AC XY: 16AN XY: 727204
GnomAD4 genome AF: 0.000165 AC: 25AN: 151692Hom.: 0 Cov.: 32 AF XY: 0.000162 AC XY: 12AN XY: 74138
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 03, 2022 | The c.1291G>A (p.G431S) alteration is located in exon 4 (coding exon 3) of the ZNF285 gene. This alteration results from a G to A substitution at nucleotide position 1291, causing the glycine (G) at amino acid position 431 to be replaced by a serine (S). 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