19-20624797-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001076675.3(ZNF626):c.1080G>C(p.Lys360Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000477 in 1,613,464 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. K360R) has been classified as Uncertain significance.
Frequency
Consequence
NM_001076675.3 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 |
---|---|---|---|---|---|---|---|
ZNF626 | NM_001076675.3 | c.1080G>C | p.Lys360Asn | missense_variant | 4/4 | ENST00000601440.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF626 | ENST00000601440.6 | c.1080G>C | p.Lys360Asn | missense_variant | 4/4 | 4 | NM_001076675.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000329 AC: 5AN: 152012Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000361 AC: 9AN: 249044Hom.: 0 AF XY: 0.0000296 AC XY: 4AN XY: 135098
GnomAD4 exome AF: 0.0000493 AC: 72AN: 1461452Hom.: 0 Cov.: 82 AF XY: 0.0000454 AC XY: 33AN XY: 727042
GnomAD4 genome ? AF: 0.0000329 AC: 5AN: 152012Hom.: 0 Cov.: 34 AF XY: 0.0000269 AC XY: 2AN XY: 74232
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 05, 2023 | The c.1080G>C (p.K360N) alteration is located in exon 4 (coding exon 4) of the ZNF626 gene. This alteration results from a G to C substitution at nucleotide position 1080, causing the lysine (K) at amino acid position 360 to be replaced by an asparagine (N). 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