17-49316984-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001145365.3(ZNF652):c.742G>A(p.Glu248Lys) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,461,894 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 (★).
Frequency
Consequence
NM_001145365.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF652 | ENST00000430262.3 | c.742G>A | p.Glu248Lys | missense_variant | Exon 2 of 6 | 1 | NM_001145365.3 | ENSP00000416305.2 | ||
ZNF652 | ENST00000362063.6 | c.742G>A | p.Glu248Lys | missense_variant | Exon 2 of 6 | 1 | ENSP00000354686.2 | |||
ZNF652 | ENST00000508237.5 | n.360+382G>A | intron_variant | Intron 3 of 7 | 2 | ENSP00000424848.1 | ||||
FLJ40194 | ENST00000655089.1 | n.864-607C>T | intron_variant | Intron 4 of 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461894Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727248
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.742G>A (p.E248K) 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 742, causing the glutamic acid (E) at amino acid position 248 to be replaced by a lysine (K). 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