IGLC1

immunoglobulin lambda constant 1, the group of Immunoglobulin lambda locus at 22q11.2

Basic information

Region (hg38): 22:22895375-22895834

Previous symbols: [ "IGLC" ]

Links

ENSG00000211675 ∙ NCBI:3537 ∙ OMIM:147220 ∙ HGNC:5855 ∙ Uniprot:P0CG04 ∙ 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 IGLC1 gene.

• Inborn genetic diseases (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IGLC1 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						0
missense			5	1		6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	1	0

Variants in IGLC1

This is a list of pathogenic ClinVar variants found in the IGLC1 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-22895393-C-T		not specified	Uncertain significance (Dec 15, 2023)
22-22895476-C-T		not specified	Uncertain significance (Jan 16, 2024)
22-22895489-C-A		not specified	Likely benign (May 23, 2024)
22-22895494-G-A		not specified	Uncertain significance (Mar 24, 2023)
22-22895518-G-A		not specified	Likely benign (Nov 29, 2023)
22-22895543-A-C		not specified	Likely benign (Sep 14, 2021)
22-22895557-A-C		not specified	Uncertain significance (Dec 15, 2023)
22-22895573-C-T		not specified	Uncertain significance (Jun 11, 2021)
22-22895585-A-G		not specified	Uncertain significance (Aug 15, 2024)
22-22895597-C-T		not specified	Uncertain significance (Mar 07, 2025)
22-22895634-C-G		not specified	Uncertain significance (Oct 25, 2024)
22-22895636-A-G		not specified	Uncertain significance (Nov 21, 2022)
22-22895642-C-T		not specified	Uncertain significance (Feb 08, 2025)
22-22895659-G-A		not specified	Uncertain significance (Jun 02, 2023)
22-22895686-T-C		not specified	Uncertain significance (Jan 16, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). {ECO:0000303|PubMed:17576170, ECO:0000303|PubMed:20176268, ECO:0000303|PubMed:22158414}.
• Pathway: B cell receptor signaling (Consensus)

Haploinsufficiency Scores

• ghis: 0.396

Essentials

• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene ontology

• Biological process: proteolysis;receptor-mediated endocytosis;phagocytosis, recognition;phagocytosis, engulfment;immune response;complement activation;complement activation, classical pathway;regulation of complement activation;Fc-epsilon receptor signaling pathway;Fc-gamma receptor signaling pathway involved in phagocytosis;defense response to bacterium;innate immune response;regulation of immune response;B cell receptor signaling pathway;positive regulation of B cell activation;leukocyte migration
• Cellular component: extracellular region;extracellular space;plasma membrane;external side of plasma membrane;immunoglobulin complex, circulating;extracellular exosome;blood microparticle
• Molecular function: antigen binding;serine-type endopeptidase activity;immunoglobulin receptor binding