C17orf107

chromosome 17 open reading frame 107

Basic information

Region (hg38): 17:4899417-4902934

Links

ENSG00000205710 ∙ NCBI:100130311 ∙ ∙ HGNC:37238 ∙ Uniprot:Q6ZR85 ∙ 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 C17orf107 gene.

• Congenital myasthenic syndrome 4A (573 variants)
• not provided (107 variants)
• Congenital myasthenic syndrome (85 variants)
• not specified (23 variants)
• Inborn genetic diseases (22 variants)
• Congenital myasthenic syndrome 4C (13 variants)
• Congenital myasthenic syndrome 4B (12 variants)
• Congenital myasthenic syndrome 4A;Congenital myasthenic syndrome 4C;Congenital myasthenic syndrome 4B (11 variants)
• Abnormality of the musculature (6 variants)
• Congenital myasthenic syndrome 4B;Congenital myasthenic syndrome 4A;Congenital myasthenic syndrome 4C (5 variants)
• Tip-toe gait (3 variants)
• CHRNE-related condition (3 variants)
• CHRNE-related disorder (1 variants)
• See cases (1 variants)
• Congenital Myasthenic Syndrome, Dominant/Recessive (1 variants)
• Myasthenic syndrome, congenital, 1B, fast-channel (1 variants)
• Myasthenic syndrome, slow-channel congenital (1 variants)
• Multifocal seizures;Neurodevelopmental delay (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C17orf107 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			3			3
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding	57	70	159	301	16	603
Total	57	70	162	302	16

Highest pathogenic variant AF is 0.000290

Variants in C17orf107

This is a list of pathogenic ClinVar variants found in the C17orf107 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-4899443-G-A			Uncertain significance (Jan 04, 2021)
17-4899448-A-C		Congenital myasthenic syndrome 4A	Likely benign (Apr 29, 2023)
17-4899450-C-T		Congenital myasthenic syndrome 4A	Likely benign (May 16, 2023)
17-4899451-G-A		Congenital myasthenic syndrome 4A	Likely benign (Jan 25, 2024)
17-4899454-C-G		Congenital myasthenic syndrome 4A	Likely benign (Jan 11, 2024)
17-4899454-C-T		Congenital myasthenic syndrome 4A	Likely benign (Aug 16, 2023)
17-4899455-C-G		Congenital myasthenic syndrome 4A	Likely benign (Jan 02, 2024)
17-4899455-C-CG		Congenital myasthenic syndrome 4A	Likely benign (Oct 12, 2023)
17-4899456-C-T		Congenital myasthenic syndrome 4A	Likely benign (Sep 03, 2023)
17-4899457-T-C		Congenital myasthenic syndrome 4A	Likely benign (Oct 06, 2023)
17-4899458-C-G		Congenital myasthenic syndrome 4A	Likely benign (Dec 04, 2022)
17-4899458-C-T		Congenital myasthenic syndrome 4A	Likely benign (Dec 21, 2019)
17-4899459-C-A		Congenital myasthenic syndrome 4A	Likely benign (Dec 11, 2023)
17-4899459-C-G		Congenital myasthenic syndrome 4A	Likely benign (Jul 02, 2022)
17-4899459-C-T		Congenital myasthenic syndrome 4A	Likely benign (Aug 23, 2023)
17-4899460-G-A		not specified • Congenital myasthenic syndrome 4A	Likely benign (Jan 25, 2024)
17-4899461-C-T		Congenital myasthenic syndrome 4A	Likely benign (Oct 25, 2023)
17-4899465-T-G		Congenital myasthenic syndrome 4A	Uncertain significance (Jan 08, 2024)
17-4899465-T-TACGTGGCGCAGCCGCGGGG		Congenital myasthenic syndrome	Likely pathogenic (Nov 26, 2021)
17-4899467-C-G		Congenital myasthenic syndrome 4C	Pathogenic (Mar 23, 2023)
17-4899467-C-T		Congenital myasthenic syndrome 4A	Likely pathogenic (Sep 11, 2023)
17-4899468-G-A		Congenital myasthenic syndrome 4A	Uncertain significance (Oct 17, 2022)
17-4899468-G-C		Congenital myasthenic syndrome 4A	Uncertain significance (Jul 19, 2022)
17-4899468-G-T		Congenital myasthenic syndrome 4A	Uncertain significance (Nov 23, 2021)
17-4899469-T-C		Congenital myasthenic syndrome 4A • Inborn genetic diseases	Uncertain significance (Jun 24, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C17orf107	protein_coding	protein_coding	ENST00000381365	3	3515

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0693	0.751	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.501	97	112	0.867	0.00000653	1164
Missense in Polyphen		25	24.945	1.0022		303
Synonymous	0.608	52	57.9	0.898	0.00000384	441
Loss of Function	0.926	2	4.00	0.500	1.68e-7	52

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: 0.61
• rvis_percentile_EVS: 83

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: 4930544D05Rik