INSYN2B

inhibitory synaptic factor family member 2B

Basic information

Region (hg38): 5:169861302-169980495

Previous symbols: [ "C5orf57", "FAM196B" ]

Links

ENSG00000204767 ∙ NCBI:100131897 ∙ ∙ HGNC:37271 ∙ Uniprot:A6NMK8 ∙ 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 INSYN2B gene.

• Inborn genetic diseases (6 variants)
• not provided (3 variants)
• not specified (1 variants)
• DOCK2 deficiency (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the INSYN2B 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			6	3		9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	6	4	1

Variants in INSYN2B

This is a list of pathogenic ClinVar variants found in the INSYN2B region.

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

Position	Type	Phenotype	Significance	ClinVar
5-169864344-G-C		not specified	Uncertain significance (Oct 27, 2021)
5-169864409-T-C		not specified	Uncertain significance (Jul 12, 2022)
5-169864459-A-G		not specified	Likely benign (Feb 05, 2024)
5-169882568-C-T		not specified	Uncertain significance (Dec 09, 2023)
5-169882621-G-T		not specified	Uncertain significance (Feb 22, 2023)
5-169882637-T-G		not specified	Uncertain significance (Oct 29, 2021)
5-169882682-C-T		not specified	Likely benign (Sep 15, 2021)
5-169882683-G-A			Likely benign (Dec 01, 2022)
5-169882757-G-A		not specified	Uncertain significance (Dec 12, 2022)
5-169882758-A-T		not specified	Uncertain significance (May 03, 2023)
5-169882810-G-A			Benign/Likely benign (Dec 01, 2022)
5-169882826-G-A		not specified	Likely benign (Mar 08, 2024)
5-169882846-G-A			Likely benign (Mar 01, 2024)
5-169882913-C-G		not specified	Uncertain significance (Feb 03, 2022)
5-169882985-G-A		not specified	Uncertain significance (Aug 30, 2021)
5-169883058-G-A		DOCK2 deficiency	Uncertain significance (Sep 26, 2018)
5-169883110-G-T		not specified	Uncertain significance (Jul 20, 2021)
5-169883150-A-G		not specified	Likely benign (Aug 11, 2022)
5-169883170-A-T		not specified	Uncertain significance (Jul 28, 2021)
5-169883174-C-G		not specified	Uncertain significance (Dec 07, 2021)
5-169883175-C-T		not specified	Uncertain significance (Jan 17, 2024)
5-169883177-G-A		not specified	Uncertain significance (Oct 26, 2021)
5-169883181-G-A		not specified	Likely benign (Dec 27, 2023)
5-169883183-G-A		not specified	Uncertain significance (Dec 16, 2023)
5-169883222-G-A		not specified	Uncertain significance (Oct 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
INSYN2B	protein_coding	protein_coding	ENST00000377365	3	116477

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.985	0.0153	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.71	202	283	0.714	0.0000147	3484
Missense in Polyphen		56	90.139	0.62126		1153
Synonymous	1.42	92	111	0.828	0.00000596	1082
Loss of Function	3.61	1	17.1	0.0585	9.33e-7	211

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)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.48
• rvis_percentile_EVS: 79.04

Haploinsufficiency Scores

• ghis: 0.478

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Fam196b