19-36626831-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_032825.5(ZNF382):āc.934A>Gā(p.Ile312Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000241 in 1,614,264 control chromosomes in the GnomAD database, including 1 homozygotes. 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 (ā ).
Frequency
Consequence
NM_032825.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF382 | NM_032825.5 | c.934A>G | p.Ile312Val | missense_variant | 5/5 | ENST00000292928.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF382 | ENST00000292928.7 | c.934A>G | p.Ile312Val | missense_variant | 5/5 | 1 | NM_032825.5 | P4 | |
ZNF382 | ENST00000435416.1 | c.931A>G | p.Ile311Val | missense_variant | 3/3 | 1 | A1 | ||
ZNF382 | ENST00000439428.5 | c.931A>G | p.Ile311Val | missense_variant | 5/5 | 1 | A1 | ||
ZNF382 | ENST00000423582.5 | c.787A>G | p.Ile263Val | missense_variant | 4/4 | 1 |
Frequencies
GnomAD3 genomes AF: 0.000144 AC: 22AN: 152256Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000215 AC: 54AN: 251086Hom.: 0 AF XY: 0.000265 AC XY: 36AN XY: 135702
GnomAD4 exome AF: 0.000251 AC: 367AN: 1461890Hom.: 1 Cov.: 35 AF XY: 0.000267 AC XY: 194AN XY: 727244
GnomAD4 genome AF: 0.000144 AC: 22AN: 152374Hom.: 0 Cov.: 32 AF XY: 0.000148 AC XY: 11AN XY: 74526
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 04, 2022 | The c.934A>G (p.I312V) alteration is located in exon 5 (coding exon 3) of the ZNF382 gene. This alteration results from a A to G substitution at nucleotide position 934, causing the isoleucine (I) at amino acid position 312 to be replaced by a valine (V). 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