chr17-82830717-G-C
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_024702.3(ZNF750):āc.1597C>Gā(p.Gln533Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000682 in 1,614,026 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_024702.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF750 | NM_024702.3 | c.1597C>G | p.Gln533Glu | missense_variant | 3/3 | ENST00000269394.4 | |
TBCD | NM_005993.5 | c.1318+15783G>C | intron_variant | ENST00000355528.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF750 | ENST00000269394.4 | c.1597C>G | p.Gln533Glu | missense_variant | 3/3 | 1 | NM_024702.3 | P1 | |
TBCD | ENST00000355528.9 | c.1318+15783G>C | intron_variant | 1 | NM_005993.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152190Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1461836Hom.: 0 Cov.: 36 AF XY: 0.00000688 AC XY: 5AN XY: 727228
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152190Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74354
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 04, 2022 | The c.1597C>G (p.Q533E) alteration is located in exon 3 (coding exon 2) of the ZNF750 gene. This alteration results from a C to G substitution at nucleotide position 1597, causing the glutamine (Q) at amino acid position 533 to be replaced by a glutamic acid (E). 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