8-132031906-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001080399.3(OC90):c.1006G>A(p.Gly336Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000223 in 1,613,888 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 (★).
Frequency
Consequence
NM_001080399.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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.1006G>A | p.Gly336Ser | missense_variant | Exon 12 of 14 | 2 | NM_001080399.3 | ENSP00000254627.3 | ||
ENSG00000258417 | ENST00000262283.5 | c.1642G>A | p.Gly548Ser | missense_variant | Exon 16 of 18 | 5 | ENSP00000262283.5 |
Frequencies
GnomAD3 genomes AF: 0.0000525 AC: 8AN: 152236Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000401 AC: 10AN: 249080Hom.: 0 AF XY: 0.0000370 AC XY: 5AN XY: 135120
GnomAD4 exome AF: 0.0000192 AC: 28AN: 1461652Hom.: 0 Cov.: 31 AF XY: 0.0000151 AC XY: 11AN XY: 727104
GnomAD4 genome AF: 0.0000525 AC: 8AN: 152236Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74382
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1006G>A (p.G336S) alteration is located in exon 12 (coding exon 11) of the OC90 gene. This alteration results from a G to A substitution at nucleotide position 1006, causing the glycine (G) at amino acid position 336 to be replaced by a serine (S). 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