rs11421222
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001004450.3(OR1B1):c.41delT(p.Leu14fs) variant causes a frameshift change. The variant allele was found at a frequency of 0.000000686 in 1,457,436 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: not found (cov: 0)
Exomes 𝑓: 6.9e-7 ( 0 hom. )
Consequence
OR1B1
NM_001004450.3 frameshift
NM_001004450.3 frameshift
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 3.75
Genes affected
OR1B1 (HGNC:8181): (olfactory receptor family 1 subfamily B member 1) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]
Genome browser will be placed here
ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR1B1 | NM_001004450.3 | c.41delT | p.Leu14fs | frameshift_variant | 2/2 | NP_001004450.2 | ||
OR1B1 | NM_001409693.1 | c.41delT | p.Leu14fs | frameshift_variant | 2/2 | NP_001396622.1 | ||
LOC124902265 | XR_007061759.1 | n.345-7605delA | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OR1B1 | ENST00000623530.2 | c.41delT | p.Leu14fs | frameshift_variant | 2/2 | 6 | ENSP00000485577.2 | |||
OR1B1 | ENST00000707075.1 | c.41delT | p.Leu14fs | frameshift_variant | 2/2 | ENSP00000516726.1 | ||||
ENSG00000234156 | ENST00000419604.1 | n.279-7608delA | intron_variant | 5 | ||||||
ENSG00000234156 | ENST00000431442.2 | n.4768-7605delA | intron_variant | 3 |
Frequencies
GnomAD3 genomes Cov.: 0
GnomAD3 genomes
Cov.:
0
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1457436Hom.: 0 Cov.: 34 AF XY: 0.00000138 AC XY: 1AN XY: 724930
GnomAD4 exome
AF:
AC:
1
AN:
1457436
Hom.:
Cov.:
34
AF XY:
AC XY:
1
AN XY:
724930
Gnomad4 AFR exome
AF:
Gnomad4 AMR exome
AF:
Gnomad4 ASJ exome
AF:
Gnomad4 EAS exome
AF:
Gnomad4 SAS exome
AF:
Gnomad4 FIN exome
AF:
Gnomad4 NFE exome
AF:
Gnomad4 OTH exome
AF:
GnomAD4 genome Cov.: 0
GnomAD4 genome
Cov.:
0
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at