7-128772566-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001385125.1(OPN1SW):c.1012T>C(p.Ser338Pro) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,872 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. S338S) has been classified as Likely benign.
Frequency
Consequence
NM_001385125.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OPN1SW | ENST00000249389.3 | c.1012T>C | p.Ser338Pro | missense_variant | Exon 5 of 5 | 1 | NM_001385125.1 | ENSP00000249389.3 | ||
CALU | ENST00000249364.9 | c.*3399A>G | 3_prime_UTR_variant | Exon 7 of 7 | 1 | NM_001219.5 | ENSP00000249364.4 | |||
CALU | ENST00000542996.7 | c.*3399A>G | 3_prime_UTR_variant | Exon 8 of 8 | 1 | ENSP00000438248.1 | ||||
CALU | ENST00000449187.7 | c.*3399A>G | 3_prime_UTR_variant | Exon 7 of 7 | 1 | ENSP00000408838.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461872Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727234
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1021T>C (p.S341P) alteration is located in exon 5 (coding exon 5) of the OPN1SW gene. This alteration results from a T to C substitution at nucleotide position 1021, causing the serine (S) at amino acid position 341 to be replaced by a proline (P). 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
Publications
No publications associated with this variant yet.