NLRP8

NLR family pyrin domain containing 8, the group of Pyrin domain containing|NLR family

Basic information

Region (hg38): 19:55947831-55988629

Previous symbols: [ "NALP8" ]

Links

ENSG00000179709 ∙ NCBI:126205 ∙ OMIM:609659 ∙ HGNC:22940 ∙ Uniprot:Q86W28 ∙ 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 NLRP8 gene.

• Inborn genetic diseases (36 variants)
• not provided (19 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NLRP8 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				2		2
missense			35	4	1	40
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	35	6	1

Variants in NLRP8

This is a list of pathogenic ClinVar variants found in the NLRP8 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-55947928-A-G		not specified	Uncertain significance (Dec 07, 2023)
19-55947936-A-C			Likely benign (Sep 01, 2022)
19-55947949-C-T		not specified	Uncertain significance (Apr 27, 2022)
19-55947989-C-G		not specified	Uncertain significance (Dec 18, 2023)
19-55948023-G-T		not specified	Uncertain significance (Feb 17, 2023)
19-55948026-A-G		not specified	Uncertain significance (Feb 17, 2024)
19-55948044-G-A			Benign/Likely benign (Nov 01, 2022)
19-55948066-G-A		not specified	Uncertain significance (Dec 19, 2023)
19-55948068-T-G		not specified	Uncertain significance (Aug 17, 2022)
19-55948173-C-T		not specified	Uncertain significance (Oct 03, 2022)
19-55948174-G-A		not specified	Uncertain significance (Sep 25, 2023)
19-55948186-G-A		not specified	Uncertain significance (Dec 16, 2023)
19-55948186-G-C			not provided (-)
19-55948257-A-G		not specified	Uncertain significance (Aug 16, 2021)
19-55952341-C-A			not provided (-)
19-55952491-C-T			not provided (-)
19-55954611-C-T		not specified	Uncertain significance (Nov 30, 2022)
19-55954767-C-T		not specified	Uncertain significance (Dec 17, 2023)
19-55954768-G-A		not specified	Uncertain significance (Jun 07, 2023)
19-55954893-G-A		not specified	Uncertain significance (Feb 22, 2023)
19-55954908-C-A			not provided (-)
19-55954908-C-T		not specified	Uncertain significance (Feb 03, 2022)
19-55954980-C-G		not specified	Uncertain significance (Jul 19, 2023)
19-55955026-C-T		not specified	Uncertain significance (Oct 26, 2022)
19-55955037-G-C		not specified	Uncertain significance (Mar 02, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NLRP8	protein_coding	protein_coding	ENST00000291971	10	40798

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.08e-25	0.000702	124997	1	749	125747	0.00299

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.853	638	580	1.10	0.0000326	6910
Missense in Polyphen		145	137.79	1.0523		1865
Synonymous	-1.42	264	236	1.12	0.0000144	2009
Loss of Function	0.212	38	39.4	0.964	0.00000189	485

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00482	0.00481
Ashkenazi Jewish	0.00129	0.00129
East Asian	0.00212	0.00207
Finnish	0.00185	0.00185
European (Non-Finnish)	0.00438	0.00436
Middle Eastern	0.00212	0.00207
South Asian	0.00165	0.00160
Other	0.00196	0.00196

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in inflammation. {ECO:0000305}.

Recessive Scores

• pRec: 0.0829

Intolerance Scores

• loftool: 0.318
• rvis_EVS: 1.88
• rvis_percentile_EVS: 97.25

Haploinsufficiency Scores

• pHI: 0.0698
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0710

Gene Damage Prediction

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

Gene ontology

• Cellular component: cellular_component;cytoplasm
• Molecular function: molecular_function;ATP binding