8-132031960-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001080399.3(OC90):c.952C>T(p.Arg318Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000304 in 1,613,874 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001080399.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OC90 | ENST00000254627.4 | c.952C>T | p.Arg318Trp | missense_variant | Exon 12 of 14 | 2 | NM_001080399.3 | ENSP00000254627.3 | ||
ENSG00000258417 | ENST00000262283.5 | c.1588C>T | p.Arg530Trp | missense_variant | Exon 16 of 18 | 5 | ENSP00000262283.5 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152218Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000241 AC: 6AN: 249084Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135110
GnomAD4 exome AF: 0.0000315 AC: 46AN: 1461656Hom.: 0 Cov.: 31 AF XY: 0.0000261 AC XY: 19AN XY: 727108
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152218Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74362
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.952C>T (p.R318W) alteration is located in exon 12 (coding exon 11) of the OC90 gene. This alteration results from a C to T substitution at nucleotide position 952, causing the arginine (R) at amino acid position 318 to be replaced by a tryptophan (W). 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