7-5882576-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001097622.2(OCM):c.145C>T(p.Arg49Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000088 in 1,613,944 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.145C>T | p.Arg49Trp | missense_variant | Exon 2 of 4 | ENST00000242104.6 | NP_001091091.1 | |
OCM | NM_001391990.1 | c.145C>T | p.Arg49Trp | missense_variant | Exon 3 of 5 | NP_001378919.1 | ||
OCM | NM_001391991.1 | c.31C>T | p.Arg11Trp | missense_variant | Exon 2 of 4 | NP_001378920.1 | ||
OCM | XM_047420752.1 | c.31C>T | p.Arg11Trp | missense_variant | Exon 2 of 4 | XP_047276708.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000191 AC: 29AN: 152064Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000103 AC: 26AN: 251478Hom.: 0 AF XY: 0.000132 AC XY: 18AN XY: 135916
GnomAD4 exome AF: 0.0000773 AC: 113AN: 1461880Hom.: 0 Cov.: 32 AF XY: 0.0000825 AC XY: 60AN XY: 727240
GnomAD4 genome AF: 0.000191 AC: 29AN: 152064Hom.: 0 Cov.: 31 AF XY: 0.000121 AC XY: 9AN XY: 74272
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.145C>T (p.R49W) alteration is located in exon 2 (coding exon 2) of the OCM gene. This alteration results from a C to T substitution at nucleotide position 145, causing the arginine (R) at amino acid position 49 to be replaced by a tryptophan (W). 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