CGB8

chorionic gonadotropin subunit beta 8, the group of Glycoprotein hormone subunits

Basic information

Region (hg38): 19:49047638-49049111

Links

ENSG00000213030 ∙ NCBI:94115 ∙ OMIM:608827 ∙ HGNC:16453 ∙ Uniprot:P0DN86 ∙ 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 CGB8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CGB8 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			21	3		24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	3	0

Variants in CGB8

This is a list of pathogenic ClinVar variants found in the CGB8 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-49047671-G-C		not specified	Uncertain significance (Apr 01, 2024)
19-49047703-A-T		not specified	Uncertain significance (Jan 23, 2024)
19-49047740-G-A		not specified	Uncertain significance (May 30, 2023)
19-49047752-C-G		not specified	Uncertain significance (Dec 18, 2023)
19-49047752-C-T		not specified	Likely benign (Oct 14, 2023)
19-49047773-G-T		not specified	Uncertain significance (Apr 16, 2024)
19-49047779-T-A		not specified	Uncertain significance (Oct 10, 2023)
19-49047797-T-G		not specified	Uncertain significance (Nov 03, 2023)
19-49047828-G-C		not specified	Uncertain significance (Jun 17, 2024)
19-49047867-C-A		not specified	Uncertain significance (Jan 16, 2024)
19-49047872-C-T		not specified	Uncertain significance (Mar 07, 2024)
19-49047875-G-A		not specified	Uncertain significance (Jan 10, 2022)
19-49047914-C-T		not specified	Uncertain significance (Mar 04, 2024)
19-49047920-T-G		not specified	Likely benign (May 25, 2022)
19-49047930-C-T		not specified	Uncertain significance (Sep 27, 2021)
19-49047944-G-C		not specified	Uncertain significance (May 15, 2024)
19-49047953-C-G		not specified	Likely benign (Aug 02, 2021)
19-49047963-C-T		not specified	Uncertain significance (Dec 26, 2023)
19-49048207-T-C		not specified	Uncertain significance (Feb 03, 2022)
19-49048243-C-G		not specified	Uncertain significance (Jun 05, 2024)
19-49048305-C-T		not specified	Uncertain significance (Jan 07, 2022)
19-49048311-C-T		not specified	Uncertain significance (Feb 15, 2023)
19-49048317-G-A		not specified	Uncertain significance (Jan 03, 2024)
19-49048339-C-T		not specified	Uncertain significance (Mar 21, 2024)
19-49048347-C-T		not specified	Uncertain significance (Mar 29, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CGB8	protein_coding	protein_coding	ENST00000448456	3	1506

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0160	0.482	125565	0	3	125568	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.07	40	16.4	2.44	0.00000105	1003
Missense in Polyphen		17	5.5305	3.0739		480
Synonymous	-2.51	14	6.11	2.29	2.99e-7	359
Loss of Function	-0.613	2	1.26	1.59	5.38e-8	35

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000264	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Beta subunit of the human chorionic gonadotropin (hCG). hCG is a complex glycoprotein composed of two glycosylated subunits alpha and beta which are non-covalently associated. The alpha subunit is identical to those in the pituitary gonadotropin hormones (LH, FSH and TSH). The beta subunits are distinct in each of the hormones and confer receptor and biological specificity. Has an essential role in pregnancy and maternal adaptation. Stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. {ECO:0000305}.
• Pathway: Gene expression (Transcription);Peptide hormone metabolism;Generic Transcription Pathway;Metabolism of proteins;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;RNA Polymerase II Transcription;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;TFAP2 (AP-2) family regulates transcription of growth factors and their receptors;Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors;GPCR signaling-G alpha i;Glycoprotein hormones;Peptide hormone biosynthesis (Consensus)

Recessive Scores

• pRec: 0.0808

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112
• ghis: 0.394

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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