chr11-7825730-C-G

Variant summary

Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4

The NM_153445.2(OR5P3):​c.243G>C​(p.Met81Ile) 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. Variant has been reported in ClinVar as Uncertain significance (★).

Frequency

Genomes: not found (cov: 32)

Consequence

OR5P3
NM_153445.2 missense

Scores

1
6
11

Clinical Significance

Uncertain significance criteria provided, single submitter U:1

Conservation

PhyloP100: 0.254
Variant links:
Genes affected
OR5P3 (HGNC:14784): (olfactory receptor family 5 subfamily P member 3) 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]

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ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 1 ACMG points.

PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (MetaRNN=0.2841072).

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
OR5P3NM_153445.2 linkuse as main transcriptc.243G>C p.Met81Ile missense_variant 2/2 ENST00000641167.1 NP_703146.1

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
OR5P3ENST00000641167.1 linkuse as main transcriptc.243G>C p.Met81Ile missense_variant 2/2 NM_153445.2 ENSP00000492944 P1
ENST00000529488.5 linkuse as main transcriptn.531+53277G>C intron_variant, non_coding_transcript_variant 5

Frequencies

GnomAD3 genomes
Cov.:
32
GnomAD4 exome
Cov.:
36
GnomAD4 genome
Cov.:
32

ClinVar

Significance: Uncertain significance
Submissions summary: Uncertain:1
Revision: criteria provided, single submitter
LINK: link

Submissions by phenotype

not specified Uncertain:1
Uncertain significance, criteria provided, single submitterclinical testingAmbry GeneticsMay 10, 2022The c.243G>C (p.M81I) alteration is located in exon 1 (coding exon 1) of the OR5P3 gene. This alteration results from a G to C substitution at nucleotide position 243, causing the methionine (M) at amino acid position 81 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
AlphaMissense
Pathogenic
0.69
BayesDel_addAF
Benign
-0.22
T
BayesDel_noAF
Benign
-0.55
CADD
Benign
19
DANN
Uncertain
0.99
DEOGEN2
Benign
0.016
T;T
Eigen
Benign
-0.013
Eigen_PC
Benign
-0.045
FATHMM_MKL
Uncertain
0.86
D
M_CAP
Benign
0.0097
T
MetaRNN
Benign
0.28
T;T
MetaSVM
Benign
-1.1
T
MutationAssessor
Uncertain
2.1
M;M
MutationTaster
Benign
0.81
N
PrimateAI
Benign
0.32
T
PROVEAN
Uncertain
-3.8
.;D
REVEL
Benign
0.098
Sift
Uncertain
0.0040
.;D
Sift4G
Uncertain
0.029
.;D
Polyphen
0.85
P;P
Vest4
0.39
MutPred
0.41
Gain of catalytic residue at L86 (P = 0.0772);Gain of catalytic residue at L86 (P = 0.0772);
MVP
0.23
MPC
0.017
ClinPred
0.97
D
GERP RS
4.4
Varity_R
0.57
gMVP
0.099

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.010
Details are displayed if max score is > 0.2

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

Publications

No publications associated with this variant yet.

Other links and lift over

hg19: chr11-7847277; API