chr4-271566-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001137608.3(ZNF732):c.1291A>G(p.Thr431Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000527 in 1,611,584 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 (★).
Frequency
Consequence
NM_001137608.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF732 | NM_001137608.3 | c.1291A>G | p.Thr431Ala | missense_variant | 4/4 | ENST00000419098.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF732 | ENST00000419098.6 | c.1291A>G | p.Thr431Ala | missense_variant | 4/4 | 2 | NM_001137608.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 151908Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000121 AC: 3AN: 247982Hom.: 0 AF XY: 0.0000149 AC XY: 2AN XY: 134546
GnomAD4 exome AF: 0.0000555 AC: 81AN: 1459676Hom.: 0 Cov.: 33 AF XY: 0.0000468 AC XY: 34AN XY: 726016
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 151908Hom.: 0 Cov.: 33 AF XY: 0.0000404 AC XY: 3AN XY: 74208
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 31, 2022 | The c.1291A>G (p.T431A) alteration is located in exon 4 (coding exon 4) of the ZNF732 gene. This alteration results from a A to G substitution at nucleotide position 1291, causing the threonine (T) at amino acid position 431 to be replaced by an alanine (A). 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