NM_001004726.1:c.372C>G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001004726.1(OR4X1):c.372C>G(p.Ile124Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000237 in 1,614,020 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001004726.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000788 AC: 12AN: 152190Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000518 AC: 13AN: 250966Hom.: 0 AF XY: 0.0000590 AC XY: 8AN XY: 135624
GnomAD4 exome AF: 0.000253 AC: 370AN: 1461830Hom.: 0 Cov.: 34 AF XY: 0.000237 AC XY: 172AN XY: 727216
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152190Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74346
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.372C>G (p.I124M) alteration is located in exon 1 (coding exon 1) of the OR4X1 gene. This alteration results from a C to G substitution at nucleotide position 372, causing the isoleucine (I) at amino acid position 124 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