rs775730015

Variant names:

• chr11-5132081-C-A
• rs775730015
• NM_001005160.3:c.562G>T

Your query was ambiguous. Multiple possible variants found:

• chr11-5132081-C-A
• chr11-5132081-C-T

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2 BP4_Moderate

The NM_001005160.3(OR52A5):​c.562G>T​(p.Val188Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V188M) has been classified as Uncertain significance.

• Frequency: Genomes: not found (cov: 32)
• Consequence: OR52A5 NM_001005160.3 missense
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.791

Genes affected

OR52A5 (HGNC:19580): (olfactory receptor family 52 subfamily A member 5) 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

Verdict is Uncertain_significance. Variant got 0 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (MetaRNN=0.21311358).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
OR52A5	NM_001005160.3	c.562G>T	p.Val188Leu	missense_variant	Exon 2 of 2	ENST00000307388.2	NP_001005160.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
OR52A5	ENST00000307388.2	c.562G>T	p.Val188Leu	missense_variant	Exon 2 of 2	6	NM_001005160.3	ENSP00000303469.1
OR52A5	ENST00000642125.1	c.562G>T	p.Val188Leu	missense_variant	Exon 2 of 2			ENSP00000493298.1

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Cov.: 33

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
AlphaMissense	Uncertain	0.41
BayesDel_addAF	Benign	-0.21	T
BayesDel_noAF	Benign	-0.54
CADD	Benign	18
DANN	Uncertain	0.99
DEOGEN2	Benign	0.012	T;T
Eigen	Benign	-0.13
Eigen_PC	Benign	-0.14
FATHMM_MKL	Benign	0.20	N
LIST_S2	Uncertain	0.86	.;D
M_CAP	Benign	0.0063	T
MetaRNN	Benign	0.21	T;T
MetaSVM	Uncertain	-0.22	T
MutationAssessor	Benign	1.6	L;L
PrimateAI	Benign	0.26	T
PROVEAN	Benign	-1.5	.;N
REVEL	Benign	0.11
Sift	Benign	0.19	.;T
Sift4G	Benign	0.11	.;T
Polyphen		0.56	P;P
Vest4		0.046
MutPred		0.46		Loss of methylation at K189 (P = 0.0358);Loss of methylation at K189 (P = 0.0358);
MVP		0.24
MPC		0.022
ClinPred		0.76	D
GERP RS		4.2
Varity_R		0.15
gMVP		0.084

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.040		Details are displayed if max score is > 0.2

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

Publications

LitVar

Other links and lift over

dbSNP: rs775730015; hg19: chr11-5153311;