LRRC37B

leucine rich repeat containing 37B

Basic information

Region (hg38): 17:32007382-32053504

Links

ENSG00000185158 ∙ NCBI:114659 ∙ OMIM:616558 ∙ HGNC:29070 ∙ Uniprot:Q96QE4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the LRRC37B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LRRC37B 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				1		1
missense			52	7		59
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1	1	2
Total	0	0	52	9	1

Variants in LRRC37B

This is a list of pathogenic ClinVar variants found in the LRRC37B region.

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

Position	Type	Phenotype	Significance	ClinVar
17-32007642-C-T			Benign (Jun 01, 2022)
17-32021112-T-C			Likely benign (Mar 01, 2023)
17-32021159-C-T		not specified	Uncertain significance (Dec 11, 2023)
17-32021177-C-G		not specified	Uncertain significance (Jul 25, 2023)
17-32021237-G-T		not specified	Uncertain significance (Mar 19, 2024)
17-32021245-C-A		not specified	Uncertain significance (Dec 09, 2023)
17-32021247-C-T		not specified	Uncertain significance (May 09, 2022)
17-32021304-C-T		not specified	Uncertain significance (Aug 30, 2022)
17-32021319-A-C		not specified	Uncertain significance (May 05, 2023)
17-32021331-C-T		not specified	Uncertain significance (May 30, 2024)
17-32021339-C-T		not specified	Uncertain significance (Jan 10, 2023)
17-32021352-C-T		not specified	Uncertain significance (Sep 12, 2023)
17-32021376-C-A		not specified	Uncertain significance (Sep 26, 2023)
17-32021381-G-C		not specified	Uncertain significance (Oct 22, 2021)
17-32021462-G-A		not specified	Uncertain significance (May 03, 2023)
17-32021493-C-A		not specified	Uncertain significance (Sep 20, 2023)
17-32021534-A-G		not specified	Uncertain significance (Jun 10, 2024)
17-32021556-T-A		not specified	Uncertain significance (Apr 05, 2023)
17-32021585-G-A		not specified	Uncertain significance (Jun 02, 2023)
17-32021598-G-A		not specified	Uncertain significance (Oct 13, 2023)
17-32021621-G-C		not specified	Uncertain significance (Feb 21, 2024)
17-32021670-T-C		not specified	Uncertain significance (Apr 25, 2024)
17-32021729-G-T		not specified	Uncertain significance (Jul 20, 2022)
17-32021732-C-G		not specified	Uncertain significance (May 17, 2023)
17-32021796-G-A		not specified	Uncertain significance (Dec 20, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
LRRC37B	protein_coding	protein_coding	ENST00000341671	12	45633

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00641	0.994	125587	0	160	125747	0.000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.105	488	495	0.987	0.0000268	6113
Missense in Polyphen		81	88.57	0.91453		1177
Synonymous	-1.28	216	193	1.12	0.0000113	1908
Loss of Function	4.19	12	41.0	0.293	0.00000210	496

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00202	0.00202
Ashkenazi Jewish	0.000201	0.000198
East Asian	0.000219	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.000687	0.000677
Middle Eastern	0.000219	0.000217
South Asian	0.0000667	0.0000653
Other	0.00198	0.00196

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.577
• rvis_EVS: 0.65
• rvis_percentile_EVS: 84.15

Haploinsufficiency Scores

• pHI: 0.0300
• hipred: N
• hipred_score: 0.332
• ghis: 0.494

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0389

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Gene ontology

• Cellular component: integral component of membrane