NM_021994.3:c.1052G>A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_021994.3(ZNF277):c.1052G>A(p.Arg351Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000981 in 1,610,986 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R351W) has been classified as Uncertain significance.
Frequency
Consequence
NM_021994.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF277 | NM_021994.3 | c.1052G>A | p.Arg351Gln | missense_variant | Exon 11 of 12 | ENST00000361822.8 | NP_068834.2 | |
ZNF277 | XM_011515768.4 | c.818G>A | p.Arg273Gln | missense_variant | Exon 11 of 12 | XP_011514070.1 | ||
ZNF277 | XM_017011720.3 | c.698G>A | p.Arg233Gln | missense_variant | Exon 10 of 11 | XP_016867209.1 | ||
ZNF277-AS1 | NR_186626.1 | n.146+141C>T | intron_variant | Intron 2 of 2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000724 AC: 11AN: 152038Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000117 AC: 29AN: 248230Hom.: 0 AF XY: 0.000164 AC XY: 22AN XY: 134082
GnomAD4 exome AF: 0.000101 AC: 147AN: 1458830Hom.: 0 Cov.: 30 AF XY: 0.000124 AC XY: 90AN XY: 725434
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152156Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74372
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1052G>A (p.R351Q) alteration is located in exon 11 (coding exon 11) of the ZNF277 gene. This alteration results from a G to A substitution at nucleotide position 1052, causing the arginine (R) at amino acid position 351 to be replaced by a glutamine (Q). 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