17-49316956-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001145365.3(ZNF652):c.770G>A(p.Arg257His) variant causes a missense change. The variant allele was found at a frequency of 0.0000229 in 1,614,028 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R257G) has been classified as Uncertain significance.
Frequency
Consequence
NM_001145365.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF652 | ENST00000430262.3 | c.770G>A | p.Arg257His | missense_variant | Exon 2 of 6 | 1 | NM_001145365.3 | ENSP00000416305.2 | ||
ZNF652 | ENST00000362063.6 | c.770G>A | p.Arg257His | missense_variant | Exon 2 of 6 | 1 | ENSP00000354686.2 | |||
ZNF652 | ENST00000508237.5 | n.360+410G>A | intron_variant | Intron 3 of 7 | 2 | ENSP00000424848.1 | ||||
FLJ40194 | ENST00000655089.1 | n.864-635C>T | intron_variant | Intron 4 of 5 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152138Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000318 AC: 8AN: 251318Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135824
GnomAD4 exome AF: 0.0000233 AC: 34AN: 1461890Hom.: 0 Cov.: 31 AF XY: 0.0000261 AC XY: 19AN XY: 727246
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152138Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74326
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.770G>A (p.R257H) alteration is located in exon 2 (coding exon 1) of the ZNF652 gene. This alteration results from a G to A substitution at nucleotide position 770, causing the arginine (R) at amino acid position 257 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