1-248180686-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001004688.2(OR2M2):c.701G>A(p.Arg234His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000211 in 1,612,360 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001004688.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR2M2 | NM_001004688.2 | c.701G>A | p.Arg234His | missense_variant | 2/2 | ENST00000641836.1 | NP_001004688.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OR2M2 | ENST00000641836.1 | c.701G>A | p.Arg234His | missense_variant | 2/2 | NM_001004688.2 | ENSP00000493201 | P1 | ||
OR2M2 | ENST00000641211.1 | c.701G>A | p.Arg234His | missense_variant | 3/3 | ENSP00000492974 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152124Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 251012Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135662
GnomAD4 exome AF: 0.0000158 AC: 23AN: 1460236Hom.: 0 Cov.: 80 AF XY: 0.00000964 AC XY: 7AN XY: 726482
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152124Hom.: 0 Cov.: 33 AF XY: 0.0000807 AC XY: 6AN XY: 74306
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 04, 2024 | The c.701G>A (p.R234H) alteration is located in exon 1 (coding exon 1) of the OR2M2 gene. This alteration results from a G to A substitution at nucleotide position 701, causing the arginine (R) at amino acid position 234 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