rs1079610
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_033282.4(OPN4):c.1181C>A(p.Thr394Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict 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. T394I) has been classified as Likely benign.
Frequency
Consequence
NM_033282.4 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 |
---|---|---|---|---|---|---|---|
OPN4 | NM_033282.4 | c.1181C>A | p.Thr394Asn | missense_variant | 8/10 | ENST00000241891.10 | |
LOC105378409 | XR_001747526.2 | n.381+559G>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OPN4 | ENST00000241891.10 | c.1181C>A | p.Thr394Asn | missense_variant | 8/10 | 1 | NM_033282.4 | P1 | |
OPN4 | ENST00000372071.7 | c.1214C>A | p.Thr405Asn | missense_variant | 9/11 | 1 | |||
OPN4 | ENST00000690949.1 | n.1215C>A | non_coding_transcript_exon_variant | 9/11 |
Frequencies
GnomAD3 genomes ? Cov.: 34
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000209 AC: 3AN: 1435684Hom.: 0 Cov.: 56 AF XY: 0.00 AC XY: 0AN XY: 711738
GnomAD4 genome ? Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at