8-132031954-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001080399.3(OC90):c.958C>T(p.Pro320Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000239 in 1,461,688 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
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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.958C>T | p.Pro320Ser | missense_variant | Exon 12 of 14 | 2 | NM_001080399.3 | ENSP00000254627.3 | ||
ENSG00000258417 | ENST00000262283.5 | c.1594C>T | p.Pro532Ser | missense_variant | Exon 16 of 18 | 5 | ENSP00000262283.5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.000100 AC: 25AN: 249090Hom.: 0 AF XY: 0.0000666 AC XY: 9AN XY: 135116
GnomAD4 exome AF: 0.0000239 AC: 35AN: 1461688Hom.: 0 Cov.: 31 AF XY: 0.0000220 AC XY: 16AN XY: 727122
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.958C>T (p.P320S) 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 958, causing the proline (P) at amino acid position 320 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