OLFML2B

olfactomedin like 2B

Basic information

Region (hg38): 1:161983192-162023869

Links

ENSG00000162745NCBI:25903HGNC:24558Uniprot:Q68BL8AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OLFML2B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OLFML2B gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
3
clinvar
3
missense
50
clinvar
2
clinvar
52
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 50 2 3

Variants in OLFML2B

This is a list of pathogenic ClinVar variants found in the OLFML2B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
1-161983694-T-A not specified Uncertain significance (Oct 30, 2023)3204253
1-161983763-G-T not specified Uncertain significance (Mar 18, 2024)3302290
1-161983785-C-T not specified Uncertain significance (Jun 17, 2022)2233834
1-161983898-A-C not specified Uncertain significance (May 30, 2023)2553099
1-161983907-C-T Likely pathogenic (Aug 01, 2015)217140
1-161983922-C-T not specified Uncertain significance (Jan 18, 2023)3204252
1-161983934-C-T not specified Uncertain significance (Sep 20, 2023)3204251
1-161983955-G-A not specified Uncertain significance (Aug 16, 2021)2245405
1-161983968-C-T not specified Uncertain significance (Feb 16, 2023)2459527
1-161984016-C-T not specified Uncertain significance (Jun 04, 2024)3302287
1-161984018-T-C not specified Uncertain significance (Jan 26, 2022)2363728
1-161984140-A-G Benign (Jun 21, 2018)780275
1-161984177-T-C not specified Uncertain significance (Jun 24, 2022)2297014
1-161984190-C-A not specified Uncertain significance (Jul 05, 2023)2594908
1-161984226-G-A not specified Uncertain significance (Aug 28, 2023)2590500
1-161984259-A-G Uncertain significance (Mar 01, 2022)2639518
1-161984843-T-C not specified Uncertain significance (Apr 01, 2024)3302286
1-161984849-C-T Likely pathogenic (Aug 01, 2015)217141
1-161984867-C-A not specified Uncertain significance (Jun 24, 2022)2297637
1-161984875-C-T not specified Uncertain significance (Aug 15, 2023)217139
1-161984884-T-A not specified Uncertain significance (Apr 17, 2024)3302291
1-161984911-C-T not specified Uncertain significance (Mar 14, 2023)217138
1-161984950-G-A not specified Uncertain significance (Mar 18, 2024)3302288
1-161984980-C-T not specified Uncertain significance (Oct 26, 2021)2257208
1-161997828-T-C not specified Uncertain significance (Nov 08, 2022)2391085

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
OLFML2Bprotein_codingprotein_codingENST00000294794 840663
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
3.65e-150.26412555211951257480.000780
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.07804534580.9900.00002844835
Missense in Polyphen152165.70.917351720
Synonymous0.3731972040.9670.00001401556
Loss of Function1.292735.30.7650.00000210345

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001390.00138
Ashkenazi Jewish0.001400.00139
East Asian0.0002180.000217
Finnish0.0004170.000416
European (Non-Finnish)0.0008610.000853
Middle Eastern0.0002180.000217
South Asian0.001210.00114
Other0.0004900.000489

dbNSFP

Source: dbNSFP

Intolerance Scores

loftool
0.199
rvis_EVS
1.23
rvis_percentile_EVS
93.26

Haploinsufficiency Scores

pHI
0.281
hipred
N
hipred_score
0.453
ghis
0.476

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.143

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Olfml2b
Phenotype

Gene ontology

Biological process
Cellular component
extracellular region
Molecular function