17-49312785-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001145365.3(ZNF652):c.961G>A(p.Val321Ile) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000167 in 1,613,872 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar 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.961G>A | p.Val321Ile | missense_variant | Exon 3 of 6 | 1 | NM_001145365.3 | ENSP00000416305.2 | ||
ZNF652 | ENST00000362063.6 | c.961G>A | p.Val321Ile | missense_variant | Exon 3 of 6 | 1 | ENSP00000354686.2 | |||
ZNF652 | ENST00000508237.5 | n.421G>A | non_coding_transcript_exon_variant | Exon 4 of 8 | 2 | ENSP00000424848.1 | ||||
FLJ40194 | ENST00000655089.1 | n.864-4806C>T | intron_variant | Intron 4 of 5 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152126Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251352Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135854
GnomAD4 exome AF: 0.0000171 AC: 25AN: 1461746Hom.: 0 Cov.: 31 AF XY: 0.0000124 AC XY: 9AN XY: 727178
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152126Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74322
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.961G>A (p.V321I) alteration is located in exon 3 (coding exon 2) of the ZNF652 gene. This alteration results from a G to A substitution at nucleotide position 961, causing the valine (V) at amino acid position 321 to be replaced by an isoleucine (I). 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