19-2917095-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_173480.3(ZNF57):c.474C>A(p.His158Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000126 in 1,614,088 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_173480.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF57 | NM_173480.3 | c.474C>A | p.His158Gln | missense_variant | Exon 4 of 4 | ENST00000306908.10 | NP_775751.1 | |
ZNF57 | NM_001319083.2 | c.378C>A | p.His126Gln | missense_variant | Exon 4 of 4 | NP_001306012.1 | ||
ZNF57 | XM_011527682.3 | c.378C>A | p.His126Gln | missense_variant | Exon 4 of 4 | XP_011525984.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152172Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000796 AC: 20AN: 251356Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135856
GnomAD4 exome AF: 0.000132 AC: 193AN: 1461798Hom.: 0 Cov.: 30 AF XY: 0.000133 AC XY: 97AN XY: 727188
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152290Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74450
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.474C>A (p.H158Q) alteration is located in exon 4 (coding exon 4) of the ZNF57 gene. This alteration results from a C to A substitution at nucleotide position 474, causing the histidine (H) at amino acid position 158 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