chr19-56384090-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001320371.4(ZNF582):c.1327G>A(p.Val443Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,459,480 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_001320371.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF582 | NM_001320371.4 | c.1327G>A | p.Val443Ile | missense_variant | 5/5 | ENST00000586929.6 | NP_001307300.2 | |
ZNF582 | NM_144690.3 | c.1327G>A | p.Val443Ile | missense_variant | 5/5 | NP_653291.1 | ||
ZNF582 | XR_007066621.1 | n.1500G>A | non_coding_transcript_exon_variant | 5/6 | ||||
ZNF582 | XR_430188.4 | n.1722G>A | non_coding_transcript_exon_variant | 5/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF582 | ENST00000586929.6 | c.1327G>A | p.Val443Ile | missense_variant | 5/5 | 1 | NM_001320371.4 | ENSP00000465619 | P1 | |
ZNF582 | ENST00000301310.8 | c.1327G>A | p.Val443Ile | missense_variant | 5/5 | 1 | ENSP00000301310 | P1 | ||
ZNF582 | ENST00000589143.5 | c.232+5911G>A | intron_variant | 5 | ENSP00000468679 | |||||
ZNF582 | ENST00000589895.2 | c.232+5911G>A | intron_variant | 2 | ENSP00000465639 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1459480Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726026
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 25, 2022 | The c.1327G>A (p.V443I) alteration is located in exon 5 (coding exon 4) of the ZNF582 gene. This alteration results from a G to A substitution at nucleotide position 1327, causing the valine (V) at amino acid position 443 to be replaced by an isoleucine (I). 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
Publications
No publications associated with this variant yet.