chr4-271740-G-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001137608.3(ZNF732):c.1117C>A(p.Gln373Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000785 in 1,605,418 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001137608.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF732 | NM_001137608.3 | c.1117C>A | p.Gln373Lys | missense_variant | 4/4 | ENST00000419098.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF732 | ENST00000419098.6 | c.1117C>A | p.Gln373Lys | missense_variant | 4/4 | 2 | NM_001137608.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000479 AC: 7AN: 146232Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000142 AC: 35AN: 246496Hom.: 0 AF XY: 0.0000971 AC XY: 13AN XY: 133868
GnomAD4 exome AF: 0.0000816 AC: 119AN: 1459186Hom.: 0 Cov.: 33 AF XY: 0.0000730 AC XY: 53AN XY: 725766
GnomAD4 genome ? AF: 0.0000479 AC: 7AN: 146232Hom.: 0 Cov.: 33 AF XY: 0.0000561 AC XY: 4AN XY: 71326
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 06, 2021 | The c.1117C>A (p.Q373K) alteration is located in exon 4 (coding exon 4) of the ZNF732 gene. This alteration results from a C to A substitution at nucleotide position 1117, causing the glutamine (Q) at amino acid position 373 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