rs367731450
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP6_Very_StrongBA1
The NM_133444.3(ZNF526):c.755_757delAGG(p.Glu252del) variant causes a disruptive inframe deletion change. The variant allele was found at a frequency of 0.00483 in 1,614,042 control chromosomes in the GnomAD database, including 292 homozygotes. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_133444.3 disruptive_inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF526 | NM_133444.3 | c.755_757delAGG | p.Glu252del | disruptive_inframe_deletion | Exon 3 of 3 | ENST00000301215.8 | NP_597701.1 | |
ZNF526 | NM_001314033.3 | c.755_757delAGG | p.Glu252del | disruptive_inframe_deletion | Exon 3 of 3 | NP_001300962.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF526 | ENST00000301215.8 | c.755_757delAGG | p.Glu252del | disruptive_inframe_deletion | Exon 3 of 3 | 1 | NM_133444.3 | ENSP00000301215.2 | ||
ENSG00000288671 | ENST00000678490.1 | c.91+6901_91+6903delCTC | intron_variant | Intron 1 of 1 | ENSP00000502878.1 | |||||
ZNF526 | ENST00000710326.1 | c.755_757delAGG | p.Glu252del | disruptive_inframe_deletion | Exon 3 of 3 | ENSP00000518206.1 |
Frequencies
GnomAD3 genomes AF: 0.0258 AC: 3925AN: 152062Hom.: 172 Cov.: 32
GnomAD3 exomes AF: 0.00664 AC: 1668AN: 251200Hom.: 55 AF XY: 0.00497 AC XY: 675AN XY: 135788
GnomAD4 exome AF: 0.00264 AC: 3864AN: 1461862Hom.: 120 AF XY: 0.00235 AC XY: 1711AN XY: 727222
GnomAD4 genome AF: 0.0259 AC: 3934AN: 152180Hom.: 172 Cov.: 32 AF XY: 0.0246 AC XY: 1833AN XY: 74392
ClinVar
Submissions by phenotype
not specified Benign:1
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not provided Benign:1
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ZNF526-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at