19-9854670-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_058164.4(OLFM2):c.881G>A(p.Arg294His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000291 in 1,614,090 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_058164.4 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 |
---|---|---|---|---|---|---|---|---|
OLFM2 | NM_058164.4 | c.881G>A | p.Arg294His | missense_variant | Exon 6 of 6 | ENST00000264833.9 | NP_477512.1 | |
OLFM2 | NM_001304347.2 | c.953G>A | p.Arg318His | missense_variant | Exon 6 of 6 | NP_001291276.1 | ||
OLFM2 | NM_001304348.2 | c.647G>A | p.Arg216His | missense_variant | Exon 5 of 5 | NP_001291277.1 | ||
OLFM2 | XM_047439713.1 | c.677G>A | p.Arg226His | missense_variant | Exon 6 of 6 | XP_047295669.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152210Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251394Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135884
GnomAD4 exome AF: 0.0000294 AC: 43AN: 1461880Hom.: 1 Cov.: 34 AF XY: 0.0000261 AC XY: 19AN XY: 727238
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152210Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74356
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.881G>A (p.R294H) alteration is located in exon 6 (coding exon 6) of the OLFM2 gene. This alteration results from a G to A substitution at nucleotide position 881, causing the arginine (R) at amino acid position 294 to be replaced by a histidine (H). 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