7-5883961-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001097622.2(OCM):c.266C>T(p.Ala89Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000384 in 1,613,196 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001097622.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OCM | NM_001097622.2 | c.266C>T | p.Ala89Val | missense_variant | Exon 3 of 4 | ENST00000242104.6 | NP_001091091.1 | |
OCM | NM_001391990.1 | c.266C>T | p.Ala89Val | missense_variant | Exon 4 of 5 | NP_001378919.1 | ||
OCM | NM_001391991.1 | c.152C>T | p.Ala51Val | missense_variant | Exon 3 of 4 | NP_001378920.1 | ||
OCM | XM_047420752.1 | c.152C>T | p.Ala51Val | missense_variant | Exon 3 of 4 | XP_047276708.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 151936Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 249176Hom.: 0 AF XY: 0.0000149 AC XY: 2AN XY: 134664
GnomAD4 exome AF: 0.0000390 AC: 57AN: 1461142Hom.: 0 Cov.: 32 AF XY: 0.0000440 AC XY: 32AN XY: 726826
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152054Hom.: 0 Cov.: 31 AF XY: 0.0000269 AC XY: 2AN XY: 74344
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.266C>T (p.A89V) alteration is located in exon 3 (coding exon 3) of the OCM gene. This alteration results from a C to T substitution at nucleotide position 266, causing the alanine (A) at amino acid position 89 to be replaced by a valine (V). 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