8-132029132-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001080399.3(OC90):āc.1079G>Cā(p.Gly360Ala) variant causes a missense change. The variant allele was found at a frequency of 0.00000929 in 1,613,832 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001080399.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OC90 | ENST00000254627.4 | c.1079G>C | p.Gly360Ala | missense_variant | Exon 13 of 14 | 2 | NM_001080399.3 | ENSP00000254627.3 | ||
ENSG00000258417 | ENST00000262283.5 | c.1715G>C | p.Gly572Ala | missense_variant | Exon 17 of 18 | 5 | ENSP00000262283.5 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152164Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 249236Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135202
GnomAD4 exome AF: 0.00000684 AC: 10AN: 1461668Hom.: 0 Cov.: 31 AF XY: 0.00000688 AC XY: 5AN XY: 727120
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152164Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74336
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1079G>C (p.G360A) alteration is located in exon 13 (coding exon 12) of the OC90 gene. This alteration results from a G to C substitution at nucleotide position 1079, causing the glycine (G) at amino acid position 360 to be replaced by an alanine (A). 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