C17orf100

chromosome 17 open reading frame 100

Basic information

Region (hg38): 17:6651762-6693202

Links

ENSG00000256806 ∙ NCBI:388327 ∙ ∙ HGNC:34494 ∙ Uniprot:A8MU93 ∙ 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 C17orf100 gene.

• Developmental and epileptic encephalopathy, 25 (184 variants)
• not provided (49 variants)
• Inborn genetic diseases (19 variants)
• not specified (10 variants)
• Epileptic encephalopathy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C17orf100 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding	5	9	91	91	20	216
Total	5	9	91	91	20

Variants in C17orf100

This is a list of pathogenic ClinVar variants found in the C17orf100 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-6685892-C-T			Benign (Jun 28, 2018)
17-6686031-A-T			Benign (Jun 14, 2018)
17-6686176-A-G			Benign (Jun 25, 2018)
17-6686209-A-G		Developmental and epileptic encephalopathy, 25	Uncertain significance (Aug 31, 2022)
17-6686213-C-G			Uncertain significance (Mar 06, 2017)
17-6686216-AAT-A		Developmental and epileptic encephalopathy, 25	Uncertain significance (Mar 17, 2023)
17-6686223-G-A		Developmental and epileptic encephalopathy, 25	Uncertain significance (May 07, 2022)
17-6686225-C-T		Developmental and epileptic encephalopathy, 25	Likely benign (Oct 16, 2023)
17-6686227-C-T		Developmental and epileptic encephalopathy, 25	Uncertain significance (Dec 04, 2020)
17-6686228-A-G			Likely benign (Jun 01, 2022)
17-6686241-G-A		Developmental and epileptic encephalopathy, 25	Uncertain significance (Aug 09, 2022)
17-6686260-A-T		Developmental and epileptic encephalopathy, 25	Uncertain significance (Jun 15, 2023)
17-6686268-C-T		Developmental and epileptic encephalopathy, 25	Uncertain significance (Apr 18, 2023)
17-6686269-G-A		Developmental and epileptic encephalopathy, 25	Uncertain significance (Aug 16, 2022)
17-6686271-C-T		Developmental and epileptic encephalopathy, 25	Uncertain significance (Jul 26, 2022)
17-6686279-G-C			Uncertain significance (Sep 14, 2022)
17-6686282-G-A		Developmental and epileptic encephalopathy, 25	Likely benign (Aug 31, 2022)
17-6686285-A-G		not specified • Developmental and epileptic encephalopathy, 25	Likely benign (Dec 06, 2023)
17-6686286-G-T		Developmental and epileptic encephalopathy, 25	Uncertain significance (Jul 01, 2022)
17-6686287-C-A			Uncertain significance (May 09, 2019)
17-6686290-A-G		Developmental and epileptic encephalopathy, 25	Likely benign (Feb 25, 2023)
17-6686292-A-C		Developmental and epileptic encephalopathy, 25	Uncertain significance (Mar 13, 2022)
17-6686292-A-G		Developmental and epileptic encephalopathy, 25	Uncertain significance (Feb 09, 2022)
17-6686299-A-G		Developmental and epileptic encephalopathy, 25	Uncertain significance (Aug 24, 2023)
17-6686308-C-T		Developmental and epileptic encephalopathy, 25	Uncertain significance (Jul 23, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.238

Essentials

• essential_gene_CRISPR2: S

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: 4930563E22Rik