8-132024670-T-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001080399.3(OC90):c.1245A>T(p.Arg415Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict 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 Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OC90 | ENST00000254627.4 | c.1245A>T | p.Arg415Ser | missense_variant | Exon 14 of 14 | 2 | NM_001080399.3 | ENSP00000254627.3 | ||
ENSG00000258417 | ENST00000262283.5 | c.1881A>T | p.Arg627Ser | missense_variant | Exon 18 of 18 | 5 | ENSP00000262283.5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1245A>T (p.R415S) alteration is located in exon 14 (coding exon 13) of the OC90 gene. This alteration results from a A to T substitution at nucleotide position 1245, causing the arginine (R) at amino acid position 415 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
Publications
No publications associated with this variant yet.