16-30555574-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001172679.2(ZNF764):c.844G>A(p.Gly282Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000104 in 1,533,042 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001172679.2 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 |
---|---|---|---|---|---|---|---|---|
ZNF764 | NM_001172679.2 | c.844G>A | p.Gly282Ser | missense_variant | Exon 3 of 3 | ENST00000395091.3 | NP_001166150.1 | |
ZNF764 | NM_033410.4 | c.847G>A | p.Gly283Ser | missense_variant | Exon 3 of 3 | NP_219363.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF764 | ENST00000395091.3 | c.844G>A | p.Gly282Ser | missense_variant | Exon 3 of 3 | 2 | NM_001172679.2 | ENSP00000378526.2 | ||
ZNF764 | ENST00000252797.6 | c.847G>A | p.Gly283Ser | missense_variant | Exon 3 of 3 | 1 | ENSP00000252797.2 | |||
ZNF764 | ENST00000568333.1 | n.*64G>A | downstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152126Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000264 AC: 4AN: 151658Hom.: 0 AF XY: 0.0000362 AC XY: 3AN XY: 82804
GnomAD4 exome AF: 0.0000109 AC: 15AN: 1380916Hom.: 0 Cov.: 31 AF XY: 0.00000735 AC XY: 5AN XY: 680654
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152126Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74310
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.847G>A (p.G283S) alteration is located in exon 3 (coding exon 3) of the ZNF764 gene. This alteration results from a G to A substitution at nucleotide position 847, causing the glycine (G) at amino acid position 283 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