1-248061082-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001004687.2(OR2L3):c.401G>A(p.Arg134His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000223 in 1,613,838 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001004687.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OR2L3 | NM_001004687.2 | c.401G>A | p.Arg134His | missense_variant | 2/2 | ENST00000359959.4 | |
LOC105373275 | XR_949369.3 | n.418+4054C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR2L3 | ENST00000359959.4 | c.401G>A | p.Arg134His | missense_variant | 2/2 | NM_001004687.2 | P1 | ||
OR2L3 | ENST00000641161.1 | c.401G>A | p.Arg134His | missense_variant | 2/2 | P1 | |||
OR2L3 | ENST00000641649.1 | c.401G>A | p.Arg134His | missense_variant | 3/3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 151962Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251420Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135884
GnomAD4 exome AF: 0.0000226 AC: 33AN: 1461876Hom.: 0 Cov.: 32 AF XY: 0.0000151 AC XY: 11AN XY: 727242
GnomAD4 genome AF: 0.0000197 AC: 3AN: 151962Hom.: 0 Cov.: 31 AF XY: 0.0000404 AC XY: 3AN XY: 74206
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at