rs1369277510
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004236.4(COPS2):c.1255G>T(p.Ala419Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,461,670 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A419G) has been classified as Uncertain significance.
Frequency
Consequence
NM_004236.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
COPS2 | ENST00000388901.10 | c.1255G>T | p.Ala419Ser | missense_variant | Exon 13 of 13 | 1 | NM_004236.4 | ENSP00000373553.5 | ||
COPS2 | ENST00000299259.10 | c.1276G>T | p.Ala426Ser | missense_variant | Exon 13 of 13 | 1 | ENSP00000299259.6 | |||
COPS2 | ENST00000542928.5 | c.1063G>T | p.Ala355Ser | missense_variant | Exon 11 of 11 | 2 | ENSP00000443664.1 | |||
COPS2 | ENST00000560240.5 | n.138+1450G>T | intron_variant | Intron 2 of 3 | 4 | ENSP00000453546.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251172Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135736
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461670Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 727136
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at