11-124383022-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001005468.2(OR8B2):c.322G>A(p.Val108Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000421 in 1,613,322 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001005468.2 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR8B2 | NM_001005468.2 | c.322G>A | p.Val108Ile | missense_variant | 2/2 | ENST00000641451.2 | NP_001005468.1 | |
OR8B2 | XM_017017535.3 | c.322G>A | p.Val108Ile | missense_variant | 3/3 | XP_016873024.1 | ||
OR8B2 | XM_017017536.2 | c.322G>A | p.Val108Ile | missense_variant | 3/3 | XP_016873025.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OR8B2 | ENST00000641451.2 | c.322G>A | p.Val108Ile | missense_variant | 2/2 | NM_001005468.2 | ENSP00000493235.1 |
Frequencies
GnomAD3 genomes AF: 0.000171 AC: 26AN: 151760Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000718 AC: 18AN: 250558Hom.: 0 AF XY: 0.0000739 AC XY: 10AN XY: 135370
GnomAD4 exome AF: 0.0000287 AC: 42AN: 1461562Hom.: 0 Cov.: 37 AF XY: 0.0000316 AC XY: 23AN XY: 727080
GnomAD4 genome AF: 0.000171 AC: 26AN: 151760Hom.: 0 Cov.: 32 AF XY: 0.000148 AC XY: 11AN XY: 74108
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 12, 2024 | The c.322G>A (p.V108I) alteration is located in exon 1 (coding exon 1) of the OR8B2 gene. This alteration results from a G to A substitution at nucleotide position 322, causing the valine (V) at amino acid position 108 to be replaced by an isoleucine (I). 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