9-135095927-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001282611.2(OLFM1):c.364G>A(p.Val122Met) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000342 in 1,461,202 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001282611.2 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 |
---|---|---|---|---|---|---|---|---|
OLFM1 | NM_001282611.2 | c.364G>A | p.Val122Met | missense_variant | Exon 3 of 6 | ENST00000371793.8 | NP_001269540.1 | |
OLFM1 | NM_014279.5 | c.310G>A | p.Val104Met | missense_variant | Exon 3 of 6 | NP_055094.1 | ||
OLFM1 | NM_001282612.1 | c.283G>A | p.Val95Met | missense_variant | Exon 3 of 6 | NP_001269541.1 | ||
OLFM1 | NM_006334.4 | c.310G>A | p.Val104Met | missense_variant | Exon 3 of 4 | NP_006325.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 1AN: 151802Hom.: 0 Cov.: 30 FAILED QC
GnomAD3 exomes AF: 0.00000797 AC: 2AN: 250934Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135694
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461202Hom.: 0 Cov.: 33 AF XY: 0.00000413 AC XY: 3AN XY: 726884
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000659 AC: 1AN: 151802Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 74106
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.310G>A (p.V104M) alteration is located in exon 3 (coding exon 3) of the OLFM1 gene. This alteration results from a G to A substitution at nucleotide position 310, causing the valine (V) at amino acid position 104 to be replaced by a methionine (M). 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