19-36626757-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032825.5(ZNF382):āc.860A>Cā(p.Gln287Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000681 in 1,614,242 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 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
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF382 | NM_032825.5 | c.860A>C | p.Gln287Pro | missense_variant | 5/5 | ENST00000292928.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF382 | ENST00000292928.7 | c.860A>C | p.Gln287Pro | missense_variant | 5/5 | 1 | NM_032825.5 | P4 | |
ZNF382 | ENST00000435416.1 | c.857A>C | p.Gln286Pro | missense_variant | 3/3 | 1 | A1 | ||
ZNF382 | ENST00000439428.5 | c.857A>C | p.Gln286Pro | missense_variant | 5/5 | 1 | A1 | ||
ZNF382 | ENST00000423582.5 | c.713A>C | p.Gln238Pro | missense_variant | 4/4 | 1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152248Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 250748Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135626
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1461876Hom.: 0 Cov.: 35 AF XY: 0.00000688 AC XY: 5AN XY: 727238
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152366Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74510
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 26, 2022 | The c.860A>C (p.Q287P) alteration is located in exon 5 (coding exon 3) of the ZNF382 gene. This alteration results from a A to C substitution at nucleotide position 860, causing the glutamine (Q) at amino acid position 287 to be replaced by a proline (P). 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