NM_020951.5:c.1155G>C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_020951.5(ZNF529):c.1155G>C(p.Gln385His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,168 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_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.1155G>C | p.Gln385His | missense_variant | Exon 5 of 5 | 1 | NM_020951.5 | ENSP00000465578.1 | ||
ZNF529 | ENST00000334116.7 | c.840G>C | p.Gln280His | missense_variant | Exon 6 of 6 | 2 | ENSP00000334695.7 | |||
ZNF529 | ENST00000590656.1 | c.126G>C | p.Gln42His | missense_variant | Exon 1 of 3 | 3 | ENSP00000468594.1 | |||
ZNF529 | ENST00000452073.2 | c.205+155G>C | intron_variant | Intron 1 of 1 | 3 | ENSP00000465917.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152168Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 34
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152168Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74350
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1155G>C (p.Q385H) alteration is located in exon 6 (coding exon 4) of the ZNF529 gene. This alteration results from a G to C substitution at nucleotide position 1155, causing the glutamine (Q) at amino acid position 385 to be replaced by a histidine (H). 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