7-128775141-T-G
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_001385125.1(OPN1SW):c.357A>C(p.Gly119Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.364 in 1,613,548 control chromosomes in the GnomAD database, including 114,691 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001385125.1 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OPN1SW | NM_001385125.1 | c.357A>C | p.Gly119Gly | synonymous_variant | Exon 2 of 5 | ENST00000249389.3 | NP_001372054.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.296 AC: 45006AN: 152004Hom.: 7849 Cov.: 32
GnomAD3 exomes AF: 0.301 AC: 75425AN: 250374Hom.: 13024 AF XY: 0.309 AC XY: 41810AN XY: 135328
GnomAD4 exome AF: 0.371 AC: 542730AN: 1461426Hom.: 106838 Cov.: 46 AF XY: 0.368 AC XY: 267793AN XY: 726972
GnomAD4 genome AF: 0.296 AC: 45008AN: 152122Hom.: 7853 Cov.: 32 AF XY: 0.290 AC XY: 21595AN XY: 74366
ClinVar
Submissions by phenotype
not provided Benign:2
- -
- -
Blue color blindness Benign:1
- -
OPN1SW-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at