LRRC75B

leucine rich repeat containing 75B

Basic information

Region (hg38): 22:24585620-24593208

Previous symbols: [ "C22orf36", "FAM211B" ]

Links

ENSG00000178026 ∙ NCBI:388886 ∙ ∙ HGNC:33155 ∙ Uniprot:Q2VPJ9 ∙ 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 LRRC75B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LRRC75B 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			27	2		29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	27	3	0

Variants in LRRC75B

This is a list of pathogenic ClinVar variants found in the LRRC75B region.

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

Position	Type	Phenotype	Significance	ClinVar
22-24585913-G-A			Likely benign (Oct 01, 2022)
22-24585972-C-T		not specified	Uncertain significance (Sep 22, 2023)
22-24585990-G-T		not specified	Uncertain significance (Nov 08, 2022)
22-24586002-C-G		not specified	Uncertain significance (Mar 08, 2024)
22-24586013-G-A		not specified	Uncertain significance (Oct 05, 2023)
22-24586027-C-G		not specified	Uncertain significance (Dec 19, 2022)
22-24586050-C-T		not specified	Uncertain significance (Dec 06, 2021)
22-24586143-C-A		not specified	Uncertain significance (Mar 04, 2024)
22-24586178-C-T		not specified	Uncertain significance (Dec 13, 2022)
22-24586208-C-T		not specified	Uncertain significance (Jan 23, 2024)
22-24586221-A-G		not specified	Uncertain significance (Apr 29, 2024)
22-24586263-C-G		not specified	Uncertain significance (Oct 25, 2022)
22-24586301-T-C		not specified	Uncertain significance (Nov 03, 2023)
22-24586332-C-T		not specified	Likely benign (Jun 09, 2022)
22-24586403-C-G		not specified	Uncertain significance (Jul 14, 2021)
22-24588236-G-A		not specified	Likely benign (Dec 16, 2022)
22-24588264-G-C		not specified	Uncertain significance (Jun 05, 2023)
22-24588271-G-A		not specified	Uncertain significance (Jan 24, 2023)
22-24588272-T-C		not specified	Uncertain significance (Mar 01, 2024)
22-24588311-A-G		not specified	Uncertain significance (Oct 12, 2021)
22-24589843-C-T		not specified	Uncertain significance (Jan 04, 2022)
22-24589885-G-T		not specified	Uncertain significance (Oct 25, 2023)
22-24589892-G-C		not specified	Uncertain significance (Oct 05, 2021)
22-24589895-A-T		not specified	Uncertain significance (Apr 06, 2023)
22-24592898-C-G		not specified	Uncertain significance (Jan 23, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
LRRC75B	protein_coding	protein_coding	ENST00000318753	4	7588

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.02e-13	0.00294	124795	0	105	124900	0.000420

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.360	136	148	0.917	0.00000949	1926
Missense in Polyphen		38	47.464	0.80061		712
Synonymous	-0.764	81	72.7	1.11	0.00000452	733
Loss of Function	-1.80	15	9.12	1.64	5.64e-7	97

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00159	0.00156
Ashkenazi Jewish	0.00	0.00
East Asian	0.00140	0.00139
Finnish	0.00	0.00
European (Non-Finnish)	0.000376	0.000371
Middle Eastern	0.00140	0.00139
South Asian	0.000296	0.000294
Other	0.000504	0.000493

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0962

Intolerance Scores

• rvis_EVS: 1.58
• rvis_percentile_EVS: 95.75

Haploinsufficiency Scores

• pHI: 0.0841
• hipred: N
• hipred_score: 0.216
• ghis: 0.513

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Lrrc75b

Gene ontology

• Cellular component: cytoplasm