chr16-31061165-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_024706.5(ZNF668):c.1763G>A(p.Arg588His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000952 in 1,366,062 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R588C) has been classified as Uncertain significance.
Frequency
Consequence
NM_024706.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF668 | NM_024706.5 | c.1763G>A | p.Arg588His | missense_variant | 3/3 | ENST00000300849.5 | |
ZNF668 | NM_001172669.2 | c.1832G>A | p.Arg611His | missense_variant | 4/4 | ||
ZNF668 | NM_001172668.2 | c.1763G>A | p.Arg588His | missense_variant | 3/3 | ||
ZNF668 | NM_001172670.2 | c.1763G>A | p.Arg588His | missense_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF668 | ENST00000300849.5 | c.1763G>A | p.Arg588His | missense_variant | 3/3 | 1 | NM_024706.5 | P1 | |
ENST00000622229.1 | n.1742C>T | non_coding_transcript_exon_variant | 2/2 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.0000113 AC: 2AN: 177436Hom.: 0 AF XY: 0.0000107 AC XY: 1AN XY: 93224
GnomAD4 exome AF: 0.00000952 AC: 13AN: 1366062Hom.: 0 Cov.: 30 AF XY: 0.0000134 AC XY: 9AN XY: 669242
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 07, 2023 | The c.1832G>A (p.R611H) alteration is located in exon 4 (coding exon 3) of the ZNF668 gene. This alteration results from a G to A substitution at nucleotide position 1832, causing the arginine (R) at amino acid position 611 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