NM_001369741.1:c.1595G>A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001369741.1(ZBTB46):c.1595G>A(p.Gly532Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000412 in 1,458,004 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G532R) has been classified as Uncertain significance.
Frequency
Consequence
NM_001369741.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZBTB46 | NM_001369741.1 | c.1595G>A | p.Gly532Glu | missense_variant | Exon 5 of 5 | ENST00000245663.9 | NP_001356670.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZBTB46 | ENST00000245663.9 | c.1595G>A | p.Gly532Glu | missense_variant | Exon 5 of 5 | 5 | NM_001369741.1 | ENSP00000245663.3 | ||
ZBTB46 | ENST00000302995.2 | c.1595G>A | p.Gly532Glu | missense_variant | Exon 5 of 7 | 2 | ENSP00000303102.2 | |||
ZBTB46 | ENST00000395104.5 | c.1595G>A | p.Gly532Glu | missense_variant | Exon 4 of 4 | 2 | ENSP00000378536.1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 1AN: 151952Hom.: 0 Cov.: 29 FAILED QC
GnomAD4 exome AF: 0.00000412 AC: 6AN: 1458004Hom.: 0 Cov.: 43 AF XY: 0.00000414 AC XY: 3AN XY: 725492
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000658 AC: 1AN: 151952Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 74200
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1595G>A (p.G532E) alteration is located in exon 5 (coding exon 4) of the ZBTB46 gene. This alteration results from a G to A substitution at nucleotide position 1595, causing the glycine (G) at amino acid position 532 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