15-49127966-A-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_004236.4(COPS2):c.1316T>A(p.Val439Asp) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000868 in 1,613,830 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004236.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
COPS2 | ENST00000388901.10 | c.1316T>A | p.Val439Asp | missense_variant | Exon 13 of 13 | 1 | NM_004236.4 | ENSP00000373553.5 | ||
COPS2 | ENST00000299259.10 | c.1337T>A | p.Val446Asp | missense_variant | Exon 13 of 13 | 1 | ENSP00000299259.6 | |||
COPS2 | ENST00000542928.5 | c.1124T>A | p.Val375Asp | missense_variant | Exon 11 of 11 | 2 | ENSP00000443664.1 | |||
COPS2 | ENST00000560240.5 | n.138+1511T>A | intron_variant | Intron 2 of 3 | 4 | ENSP00000453546.1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152190Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 251146Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135732
GnomAD4 exome AF: 0.00000753 AC: 11AN: 1461640Hom.: 0 Cov.: 30 AF XY: 0.00000275 AC XY: 2AN XY: 727106
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152190Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74348
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1337T>A (p.V446D) alteration is located in exon 13 (coding exon 13) of the COPS2 gene. This alteration results from a T to A substitution at nucleotide position 1337, causing the valine (V) at amino acid position 446 to be replaced by an aspartic acid (D). 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