chr4-145765160-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001306215.2(ZNF827):c.3058G>A(p.Glu1020Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000747 in 1,606,602 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001306215.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152146Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000124 AC: 3AN: 241552Hom.: 0 AF XY: 0.0000154 AC XY: 2AN XY: 130100
GnomAD4 exome AF: 0.00000619 AC: 9AN: 1454338Hom.: 0 Cov.: 31 AF XY: 0.00000830 AC XY: 6AN XY: 722666
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152264Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74446
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3058G>A (p.E1020K) alteration is located in exon 13 (coding exon 13) of the ZNF827 gene. This alteration results from a G to A substitution at nucleotide position 3058, causing the glutamic acid (E) at amino acid position 1020 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