LRRC75B

Gene

leucine rich repeat containing 75B

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

Previous symbols:

C22orf36
FAM211B

MANE transcript

NM_207644.3

Inheritance

—

ClinVar variants

U:66B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.64

Max pathogenic AF

—

Genomic locus

chr22:24,585,620-24,593,208

External References & Databases

Ensembl (ENSG00000178026)

Transcript & Mutation Effects

hg38 • Region Span ~7.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to LRRC75B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 68

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_207644.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			64 clinvar	4 clinvar		68
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	66	6	0	72

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 41 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_207644.3	RefSeq	NP_997527.2	4	MANE Select
ENST00000318753.13	Ensembl	ENSP00000320520.8	4	MANE Select
ENST00000404045.6	Ensembl	ENSP00000384130.2	2	Standard
ENST00000446942.5	Ensembl	ENSP00000400102.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000318753
Coding exons: 4
Length: 7588
Individuals with no LoFs: 124795
Homozygous LoFs: 0
Heterozygous LoFs: 105
Defined: 124900
p: 0.000420

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.360	136	148	0.917	0.00000949	1926
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0015	0.0015	notable
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0014	0.0014	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.00038	0.00037	rare
South Asian	0.00030	0.00029	rare
Other	0.00050	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0962

Intolerance Scores

RVIS EVS: 1.58
RVIS percentile EVS: 95.75

Essentials

Essential (gene trap): N