chr19-36183140-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_152477.5(ZNF565):c.826G>A(p.Glu276Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0000103 in 1,461,876 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152477.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF565 | ENST00000304116.10 | c.826G>A | p.Glu276Lys | missense_variant | Exon 5 of 5 | 2 | NM_152477.5 | ENSP00000306869.5 | ||
ZNF565 | ENST00000591473.1 | c.631G>A | p.Glu211Lys | missense_variant | Exon 4 of 4 | 1 | ENSP00000465906.1 | |||
ZNF565 | ENST00000355114.9 | c.946G>A | p.Glu316Lys | missense_variant | Exon 5 of 5 | 2 | ENSP00000347234.5 | |||
ZNF565 | ENST00000392173.6 | c.826G>A | p.Glu276Lys | missense_variant | Exon 5 of 5 | 2 | ENSP00000376013.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000358 AC: 9AN: 251462Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135904
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1461876Hom.: 0 Cov.: 30 AF XY: 0.00000550 AC XY: 4AN XY: 727240
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.826G>A (p.E276K) alteration is located in exon 5 (coding exon 4) of the ZNF565 gene. This alteration results from a G to A substitution at nucleotide position 826, causing the glutamic acid (E) at amino acid position 276 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