LRRC37B

leucine rich repeat containing 37B

Basic information

Region (hg38): 17:32007383-32053504

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.

• not_specified (136 variants)
• not_provided (3 variants)

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. These statistics are base on transcript: NM_001321350.2. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			104	13		117
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	104	15	0

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