chr5-181155865-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_206880.2(OR2V2):c.923G>A(p.Arg308His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000198 in 1,613,490 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_206880.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR2V2 | NM_206880.2 | c.923G>A | p.Arg308His | missense_variant | 2/2 | ENST00000641492.1 | NP_996763.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OR2V2 | ENST00000641492.1 | c.923G>A | p.Arg308His | missense_variant | 2/2 | NM_206880.2 | ENSP00000493207 | P1 | ||
OR2V2 | ENST00000641791.1 | c.923G>A | p.Arg308His | missense_variant | 3/3 | ENSP00000493017 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152200Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000483 AC: 12AN: 248572Hom.: 0 AF XY: 0.0000370 AC XY: 5AN XY: 134998
GnomAD4 exome AF: 0.0000212 AC: 31AN: 1461172Hom.: 0 Cov.: 36 AF XY: 0.0000206 AC XY: 15AN XY: 726756
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152318Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74486
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 20, 2024 | The c.923G>A (p.R308H) alteration is located in exon 1 (coding exon 1) of the OR2V2 gene. This alteration results from a G to A substitution at nucleotide position 923, causing the arginine (R) at amino acid position 308 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