chr16-31077606-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014699.4(ZNF646):c.1282C>A(p.Gln428Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000211 in 1,613,526 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_014699.4 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 |
---|---|---|---|---|---|---|---|
ZNF646 | NM_014699.4 | c.1282C>A | p.Gln428Lys | missense_variant | 2/3 | ENST00000300850.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF646 | ENST00000300850.5 | c.1282C>A | p.Gln428Lys | missense_variant | 2/3 | 1 | NM_014699.4 | P2 | |
ZNF646 | ENST00000394979.2 | c.1282C>A | p.Gln428Lys | missense_variant | 1/1 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000329 AC: 5AN: 152182Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000241 AC: 6AN: 249384Hom.: 0 AF XY: 0.0000370 AC XY: 5AN XY: 135084
GnomAD4 exome AF: 0.0000198 AC: 29AN: 1461344Hom.: 0 Cov.: 33 AF XY: 0.0000138 AC XY: 10AN XY: 726956
GnomAD4 genome ? AF: 0.0000329 AC: 5AN: 152182Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74350
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 19, 2024 | The c.1282C>A (p.Q428K) alteration is located in exon 2 (coding exon 1) of the ZNF646 gene. This alteration results from a C to A substitution at nucleotide position 1282, causing the glutamine (Q) at amino acid position 428 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