19-36547639-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_020951.5(ZNF529):c.919G>A(p.Glu307Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000279 in 1,613,620 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020951.5 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 |
---|---|---|---|---|---|---|---|---|---|---|
ZNF529 | ENST00000591340.6 | c.919G>A | p.Glu307Lys | missense_variant | Exon 5 of 5 | 1 | NM_020951.5 | ENSP00000465578.1 | ||
ZNF529 | ENST00000334116.7 | c.604G>A | p.Glu202Lys | missense_variant | Exon 6 of 6 | 2 | ENSP00000334695.7 | |||
ZNF529 | ENST00000452073.2 | c.124G>A | p.Glu42Lys | missense_variant | Exon 1 of 2 | 3 | ENSP00000465917.1 | |||
ZNF529 | ENST00000590656.1 | c.-111G>A | upstream_gene_variant | 3 | ENSP00000468594.1 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152168Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000280 AC: 7AN: 249598Hom.: 0 AF XY: 0.0000369 AC XY: 5AN XY: 135356
GnomAD4 exome AF: 0.0000253 AC: 37AN: 1461452Hom.: 0 Cov.: 34 AF XY: 0.0000344 AC XY: 25AN XY: 726996
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152168Hom.: 0 Cov.: 32 AF XY: 0.0000673 AC XY: 5AN XY: 74322
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.919G>A (p.E307K) alteration is located in exon 6 (coding exon 4) of the ZNF529 gene. This alteration results from a G to A substitution at nucleotide position 919, causing the glutamic acid (E) at amino acid position 307 to be replaced by a lysine (K). 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