rs72655374

Variant names:

• chr1-247456205-C-A
• rs72655374
• NM_001004492.2:c.-3082-1141G>T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_001004492.2(OR2B11):​c.-3082-1141G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0931 in 152,208 control chromosomes in the GnomAD database, including 792 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.093 (792 hom., cov: 32)
• Consequence: OR2B11 NM_001004492.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.63
• Publications: 0 publications found

Genes affected

OR2B11 (HGNC:31249): (olfactory receptor family 2 subfamily B member 11) 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. [provided by RefSeq, Jul 2008]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.117 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
OR2B11	NM_001004492.2	c.-3082-1141G>T		intron_variant	Intron 1 of 1	ENST00000641149.2	NP_001004492.1
OR2B11	NR_169840.1	n.371-1141G>T		intron_variant	Intron 1 of 4

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
OR2B11	ENST00000641149.2	c.-3082-1141G>T		intron_variant	Intron 1 of 1		NM_001004492.2	ENSP00000492892.1
OR2B11	ENST00000641527.1	c.-1213-1141G>T		intron_variant	Intron 1 of 2			ENSP00000493421.1
OR2B11	ENST00000641613.1	n.371-1141G>T		intron_variant	Intron 1 of 4

Frequencies

GnomAD3 genomes AF: 0.0932 AC: 14169 AN: 152090 Hom.: 794 Cov.: 32

Gnomad AFR AF: 0.0312

Gnomad AMI AF: 0.174

Gnomad AMR AF: 0.0894

Gnomad ASJ AF: 0.156

Gnomad EAS AF: 0.0649

Gnomad SAS AF: 0.0599

Gnomad FIN AF: 0.173

Gnomad MID AF: 0.0886

Gnomad NFE AF: 0.120

Gnomad OTH AF: 0.0940

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.0931 AC: 14169 AN: 152208 Hom.: 792 Cov.: 32 AF XY: 0.0953 AC XY: 7093 AN XY: 74416

African (AFR) AF: 0.0313 AC: 1300 AN: 41540

American (AMR) AF: 0.0893 AC: 1365 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.156 AC: 540 AN: 3470

East Asian (EAS) AF: 0.0651 AC: 337 AN: 5180

South Asian (SAS) AF: 0.0601 AC: 290 AN: 4822

European-Finnish (FIN) AF: 0.173 AC: 1833 AN: 10594

Middle Eastern (MID) AF: 0.0714 AC: 21 AN: 294

European-Non Finnish (NFE) AF: 0.120 AC: 8128 AN: 68004

Other (OTH) AF: 0.0935 AC: 197 AN: 2108

Alfa AF: 0.106 Hom.: 253

Bravo AF: 0.0853

Asia WGS AF: 0.0630 AC: 218 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.38
DANN	Benign	0.47
PhyloP100		-1.6

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs72655374; hg19: chr1-247619507;